Found: 10
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Maternal mosaicism for a missense variant in the SMS gene that causes Snyder-Robinson syndrome.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 6, p. 1, doi. 10.1101/mcs.a006122
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- Article
Early-onset Wilson disease caused by ATP7B exon skipping associated with intronic variant.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 3, p. 1, doi. 10.1101/mcs.a005306
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- Article
Case report and review of the literature: immune dysregulation in a large familial cohort due to a novel pathogenic RELA variant.
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- Rheumatology, 2023, v. 62, n. 1, p. 347, doi. 10.1093/rheumatology/keac227
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- Article
Cerebral organoids containing an AUTS2 missense variant model microcephaly.
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- Brain: A Journal of Neurology, 2023, v. 146, n. 1, p. 387, doi. 10.1093/brain/awac244
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- Article
Hypomorphic alleles pose challenges in rare disease genomic variant interpretation.
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- Clinical Genetics, 2021, v. 100, n. 6, p. 775, doi. 10.1111/cge.14052
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- Article
Long‐read whole genome sequencing reveals HOXD13 alterations in synpolydactyly.
- Published in:
- Human Mutation, 2022, v. 43, n. 2, p. 189, doi. 10.1002/humu.24304
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- Article
Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss.
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- Human Mutation, 2019, v. 40, n. 12, p. 2286, doi. 10.1002/humu.23891
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- Article
Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery.
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- Human Mutation, 2018, v. 39, n. 8, p. 1126, doi. 10.1002/humu.23557
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- Publication type:
- Article
Duplication of the Xq27.3-q28 region, including the FMR1 gene, in an X-linked hypogonadism, gynecomastia, intellectual disability, short stature, and obesity syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2294, doi. 10.1002/ajmg.a.36034
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- Article
Assessing the Clinical Utility of SNP Microarray for Prader-Willi Syndrome due to Uniparental Disomy.
- Published in:
- Cytogenetic & Genome Research, 2017, v. 152, n. 2, p. 105, doi. 10.1159/000478921
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- Article