Works matching IS 03406717 AND DT 2024 AND VI 143 AND IP 8
Results: 5
Gain-of-function variants in GSDME cause pyroptosis and apoptosis associated with post-lingual hearing loss.
- Published in:
- Human Genetics, 2024, v. 143, n. 8, p. 979, doi. 10.1007/s00439-024-02694-x
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- Publication type:
- Article
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
- Published in:
- Human Genetics, 2024, v. 143, n. 8, p. 995, doi. 10.1007/s00439-024-02691-0
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- Publication type:
- Article
The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation.
- Published in:
- Human Genetics, 2024, v. 143, n. 8, p. 965, doi. 10.1007/s00439-024-02688-9
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- Publication type:
- Article
Automatized detection of uniparental disomies in a large cohort.
- Published in:
- Human Genetics, 2024, v. 143, n. 8, p. 955, doi. 10.1007/s00439-024-02687-w
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- Publication type:
- Article
FOXM1 c.1205 C > A mutation is associated with unilateral Moyamoya disease and inhibits angiogenesis in human brain endothelial cells.
- Published in:
- Human Genetics, 2024, v. 143, n. 8, p. 939, doi. 10.1007/s00439-024-02685-y
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- Publication type:
- Article