Varaico: Literature-Extracted Genetic Variants

Gene:EPS8L3
Variant:p.Q260*
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EPS8L3

NM_133181.4:p.Q260*

Associated Papers

Epidermal second-hit mutation in MVK gene associated with linear porokeratosis.

Zhao A et al.

Genes & Diseases, 2025

39386107 (PubMed )
Supplement: mmc2.xlsx › standard

Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.

Samorodnitsky E et al.

Human Mutation, 2015

26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-0006-Table_S9.xlsx › Sheet1
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