Found: 10
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- Published in:
- Human Mutation, 2021, v. 42, n. 7, p. 797, doi. 10.1002/humu.24044
- Publication type:
- Article
Benchmarking deep learning splice prediction tools using functional splice assays.
- Published in:
- Human Mutation, 2021, v. 42, n. 7, p. 799, doi. 10.1002/humu.24212
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- Publication type:
- Article
Dissection of contiguous gene effects for deletions around ERF on chromosome 19.
- Published in:
- Human Mutation, 2021, v. 42, n. 7, p. 811, doi. 10.1002/humu.24213
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- Publication type:
- Article
A novel GSN variant outside the G2 calcium‐binding domain associated with Amyloidosis of the Finnish type.
- Published in:
- Human Mutation, 2021, v. 42, n. 7, p. 818, doi. 10.1002/humu.24214
- By:
- Publication type:
- Article
Broadening the phenotypic spectrum and physiological insights related to EIF2S3 variants.
- Published in:
- Human Mutation, 2021, v. 42, n. 7, p. 827, doi. 10.1002/humu.24215
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- Publication type:
- Article
Different types of disease‐causing noncoding variants revealed by genomic and gene expression analyses in families with X‐linked intellectual disability.
- Published in:
- Human Mutation, 2021, v. 42, n. 7, p. 835, doi. 10.1002/humu.24207
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- Publication type:
- Article
Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder.
- Published in:
- Human Mutation, 2021, v. 42, n. 7, p. 848, doi. 10.1002/humu.24208
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- Publication type:
- Article
New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder.
- Published in:
- Human Mutation, 2021, v. 42, n. 7, p. 862, doi. 10.1002/humu.24211
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- Publication type:
- Article
Identification of missense MAB21L1 variants in microphthalmia and aniridia.
- Published in:
- Human Mutation, 2021, v. 42, n. 7, p. 877, doi. 10.1002/humu.24218
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- Publication type:
- Article
Exome sequencing as the first‐tier test for pediatric respiratory diseases: A single‐center study.
- Published in:
- Human Mutation, 2021, v. 42, n. 7, p. 891, doi. 10.1002/humu.24216
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- Publication type:
- Article