Varaico: Literature-Extracted Genetic Variants

Gene:SEMA6D
Variant:p.V251M
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SEMA6D

NM_001358351.3:p.V251M

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 › HLRBS16_het

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa.

Arno G et al.

American Journal of Human Genetics, 2016

27889058 (PubMed )
Supplement: mmc1.pdf
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