Varaico: Literature-Extracted Genetic Variants

Gene:PGK1
Variant:p.A169V
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PGK1

NM_000291.4:p.A169V

Associated Papers

Targeted sequencing identifies 33 novel mutations in 130 ClinGen curated hearing loss genes among 253 pediatric patients: A retrospective case study.

Zhou Z et al.

Biomedical Reports, 2025

40322553 (PubMed )
Supplement: Supplementary_Data3.xlsx › Table_S2

Rare damaging variants in the sex differences of congenital heart disease: an exome sequencing study.

Sun H et al.

Ebiomedicine, 2025

40347836 (PubMed )
Supplement: mmc2.xlsx › Supplementary_Table_6

Multi-omics analysis identifies osteosarcoma subtypes with distinct prognosis indicating stratified treatment.

Jiang Y et al.

Nature Communications, 2022

36418292 (PubMed )
Supplement: 41467_2022_34689_MOESM4_ESM.zip › Supplementary_Data › Supplementary_Data_5.xlsx › Sheet1
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