Works matching IS 10597794 AND DT 2020 AND VI 41 AND IP 3
Results: 17
Front Cover, Volume 41, Issue 3.
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- Human Mutation, 2020, v. 41, n. 3, p. i, doi. 10.1002/humu.23994
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An intellectual disability‐associated missense variant in TRMT1 impairs tRNA modification and reconstitution of enzymatic activity.
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- Human Mutation, 2020, v. 41, n. 3, p. 600, doi. 10.1002/humu.23976
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Differences in patient ascertainment affect the use of gene‐specified ACMG/AMP phenotype‐related variant classification criteria: Evidence for TP53.
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- Human Mutation, 2020, v. 41, n. 3, p. 537, doi. 10.1002/humu.23972
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Hermansky–Pudlak syndrome: Mutation update.
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- Human Mutation, 2020, v. 41, n. 3, p. 543, doi. 10.1002/humu.23968
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Comprehensive profiling of BRCA1 and BRCA2 variants in breast and ovarian cancer in Chinese patients.
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- Human Mutation, 2020, v. 41, n. 3, p. 696, doi. 10.1002/humu.23965
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The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype.
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- Human Mutation, 2020, v. 41, n. 3, p. 591, doi. 10.1002/humu.23964
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Pred‐MutHTP: Prediction of disease‐causing and neutral mutations in human transmembrane proteins.
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- Human Mutation, 2020, v. 41, n. 3, p. 581, doi. 10.1002/humu.23961
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Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.
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- Human Mutation, 2020, v. 41, n. 3, p. 641, doi. 10.1002/humu.23960
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Osteoporosis genome‐wide association study variant c.3781 C>A is regulated by a novel anti‐osteogenic factor miR‐345‐5p.
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- Human Mutation, 2020, v. 41, n. 3, p. 709, doi. 10.1002/humu.23959
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DNA repair functional analyses of NBN hypomorphic variants associated with NBN‐related infertility.
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- Human Mutation, 2020, v. 41, n. 3, p. 608, doi. 10.1002/humu.23955
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High‐throughput custom capture sequencing identifies novel mutations in coloboma‐associated genes: Mutation in DNA‐binding domain of retinoic acid receptor beta affects nuclear localization causing ocular coloboma.
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- Human Mutation, 2020, v. 41, n. 3, p. 678, doi. 10.1002/humu.23954
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Exonic rearrangements in DMD in Chinese Han individuals affected with Duchenne and Becker muscular dystrophies.
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- Human Mutation, 2020, v. 41, n. 3, p. 668, doi. 10.1002/humu.23953
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CSGALNACT1‐congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age.
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- Human Mutation, 2020, v. 41, n. 3, p. 655, doi. 10.1002/humu.23952
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DualWMDR: Detecting epistatic interaction with dual screening and multifactor dimensionality reduction.
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- Human Mutation, 2020, v. 41, n. 3, p. 719, doi. 10.1002/humu.23951
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Truncating variants in UBAP1 associated with childhood‐onset nonsyndromic hereditary spastic paraplegia.
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- Human Mutation, 2020, v. 41, n. 3, p. 632, doi. 10.1002/humu.23950
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Congenital myasthenic syndrome due to mutations in MUSK suggests that the level of MuSK phosphorylation is crucial for governing synaptic structure.
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- Human Mutation, 2020, v. 41, n. 3, p. 619, doi. 10.1002/humu.23949
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Issue Information.
- Published in:
- Human Mutation, 2020, v. 41, n. 3, p. 533, doi. 10.1002/humu.23807
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- Article