Varaico: Literature-Extracted Genetic Variants

Gene:FAM181B
Variant:p.P140L
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FAM181B

NM_175885.4:p.P140L

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 › HLMS33_het

DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration.

Vig A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32753734 (PubMed )
Supplement: 41436_2020_915_MOESM1_ESM.pdf
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