Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHN1
Variant:p.K278E
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PLEKHN1

NM_032129.3:p.K278E

Associated Papers

Deciphering genes associated with diffuse large B-cell lymphoma with lymphomatous effusions: A mutational accumulation scoring approach.

Abdollahi S et al.

Biomarker Research, 2021

34635181 (PubMed )
Supplement: 40364_2021_330_MOESM2_ESM.xlsx › ___1

Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family.

Chow YP et al.

Orphanet Journal of Rare Diseases, 2017

28222800 (PubMed )
Supplement: 13023_2017_575_MOESM3_ESM.xlsx › Table_S2
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