Varaico: Literature-Extracted Genetic Variants

Gene:VWA5A
Variant:p.Y325C
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VWA5A

NM_001130142.2:p.Y325C

Associated Papers

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HPK7_het

Highlighting novel genes associated with the classical Rett syndrome patient from India.

Mohan G et al.

Genes & Diseases, 2022

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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."