Varaico: Literature-Extracted Genetic Variants

Gene:CRYBA4
Variant:p.V36M
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CRYBA4

NM_001886.3:p.V36M

Associated Papers

Three Unrelated Children With Childhood Apraxia of Speech: Exome Sequencing and Functional Gene Analysis Imply a Role of Laminin-511 in Early Neurodevelopment.

Raaz C et al.

Case Reports in Genetics, 2026

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.

Wang Z et al.

Plos One, 2020

31935276 (PubMed )
Supplement: pone.0227859.s001.xlsx › Protein_stablity

CRYBA4, a novel human cataract gene, is also involved in microphthalmia.

Billingsley G et al.

American Journal of Human Genetics, 2006

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."