Proactive functional classification of all possible missense single-nucleotide variants in KCNQ4

Clinical exome sequencing has yielded extensive disease-related missense single-nucleotide variants (SNVs) of uncertain significance, leading to diagnostic uncertainty. KCNQ4 is one of the most commonly responsible genes for autosomal dominant nonsyndromic hearing loss. According to the gnomAD cohor...

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Detalles Bibliográficos
Autores principales: Zheng, Honglan, Yan, Xinhao, Li, Guanluan, Lin, Hengwei, Deng, Siqi, Zhuang, Wenhui, Yao, Fuqiang, Lu, Yu, Xia, Xin, Yuan, Huijun, Jin, Li, Yan, Zhiqiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2022
Materias:
Resource
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9435748/
https://www.ncbi.nlm.nih.gov/pubmed/35760561
http://dx.doi.org/10.1101/gr.276562.122

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9435748/
https://www.ncbi.nlm.nih.gov/pubmed/35760561
http://dx.doi.org/10.1101/gr.276562.122

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