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In silico analysis and high-risk pathogenic phenotype predictions of non-synonymous single nucleotide polymorphisms in human Crystallin beta A4 gene associated with congenital cataract

In order to provide a cost-effective method to narrow down the number of pathogenic Crystallin beta A4 (CRYBA4) non-synonymous single nucleotide polymorphisms (nsSNPs), we collected nsSNP information of the CRYBA4 gene from SNP databases and literature, predicting the pathogenicity and possible chan...

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Detalles Bibliográficos
Autores principales: Wang, Zhenyu, Huang, Chen, Lv, Huibin, Zhang, Mingzhou, Li, Xuemin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6959596/
https://www.ncbi.nlm.nih.gov/pubmed/31935276
http://dx.doi.org/10.1371/journal.pone.0227859