Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.D126V
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PRKN

NM_004562.3:p.D126V

Associated Papers

Evolutionary rescue of phosphomannomutase deficiency in yeast models of human disease.

Vignogna RC et al.

Elife, 2022

36214454 (PubMed )
Supplement: elife-79346-supp1.xlsx › Sheet1

Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.

Fields FR et al.

Plos One, 2020

33151962 (PubMed )
Supplement: pone.0234100.s006.xlsx › Missense_Mutations_Unweighted
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