Varaico: Literature-Extracted Genetic Variants

Gene:DIAPH1
Variant:p.P719L
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DIAPH1

NM_005219.5:p.P719L

Associated Papers

Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss.

Kim SY et al.

Scientific Reports, 2022

Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneity.

Kim SY et al.

Scientific Reports, 2021

34593925 (PubMed )
Supplement: 41598_2021_99007_MOESM1_ESM.xlsx › Table_S1
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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."