Varaico: Literature-Extracted Genetic Variants

Gene:PSMD2
Variant:p.E313D
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PSMD2

NM_002808.5:p.E313D

Associated Papers

Characterization of prevalent genetic variants in the Estonian Biobank body-mass index GWAS.

Abner E et al.

Nature Communications, 2025

41062462 (PubMed )
Supplement: 41467_2025_64006_MOESM6_ESM.xlsx › Figure1a

Exome sequencing in a Swedish family with PMS2 mutation with varying penetrance of colorectal cancer: investigating the presence of genetic risk modifiers in colorectal cancer risk.

Bryant P et al.

European Journal of Cancer Prevention : the Official Journal of the European Cancer Prevention Organisation (ecp), 2023

Genetics of proteasome diseases.

Gomes AV

Scientifica, 2013

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