Varaico: Literature-Extracted Genetic Variants

Gene:MYO6
Variant:p.E159K
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MYO6

NM_004999.4:p.E159K

Associated Papers

VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.

Ohno S et al.

Computational and Structural Biotechnology Journal, 2025

40160862 (PubMed )
Supplement: mmc2.xlsx › Sheet1

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

Kim SY et al.

Scientific Reports, 2022

35864128 (PubMed )
Supplement: 41598_2022_16661_MOESM3_ESM.xlsx › Oza_et_al._2018

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.

Patel MJ et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

34230634 (PubMed )
Supplement: NIHMS1734674-supplement-Supplementary_Table_1.xlsx › _Suppl_Table_1
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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."