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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:P3H3

Variant:p.C81Y

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P3H3

NM_014262.5:p.C81Y

hg38:chr12:6828682 G>A

Associated Papers

Analysis of p.Gly12Valfs2, p.Trp24 and p.Trp77Arg mutations in GJB2 and p.Arg81Gln variant in LRTOMT among non syndromic hearing loss Egyptian patients: implications for genetic diagnosis.

Gibriel AA et al.

Molecular Biology Reports, 2019

30730013 (PubMed )

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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."

Varaico: Literature-Extracted Genetic Variants

Associated Papers

Analysis of p.Gly12Valfs*2, p.Trp24* and p.Trp77Arg mutations in GJB2 and p.Arg81Gln variant in LRTOMT among non syndromic hearing loss Egyptian patients: implications for genetic diagnosis.

Analysis of p.Gly12Valfs2, p.Trp24 and p.Trp77Arg mutations in GJB2 and p.Arg81Gln variant in LRTOMT among non syndromic hearing loss Egyptian patients: implications for genetic diagnosis.