Varaico: Literature-Extracted Genetic Variants

Gene:IFNA7
Variant:p.V129L
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IFNA7

NM_021057.2:p.V129L

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 › HLMS09_het

Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis.

Herdewyn S et al.

Human Molecular Genetics, 2012

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