Varaico: Literature-Extracted Genetic Variants

Gene:PRRC2A
Variant:p.P2006S
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PRRC2A

NM_004638.4:p.P2006S

Associated Papers

The Taiwan Precision Medicine Initiative provides a cohort for large-scale studies.

Yang HC et al.

Nature, 2025

41092961 (PubMed )
Supplement: 41586_2025_9680_MOESM4_ESM.zip › Supplemental_Data_19.xlsx › Supplemental_Data_19

Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia.

Masuda L et al.

Human Genome Variation, 2024

39183348 (PubMed )
Supplement: 41439_2024_290_MOESM1_ESM.pdf

Exome sequencing identifies novel genetic variants associated with varicose veins.

Zhang DD et al.

Plos Genetics, 2024

38980841 (PubMed )
Supplement: pgen.1011339.s009.xlsx › Sheet1

Exome-wide association analysis of CT imaging-derived hepatic fat in a medical biobank.

Park J et al.

Cell Reports. Medicine, 2022

36513072 (PubMed )
Supplement: mmc8.pdf

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Calender A et al.

Bmc Medical Genomics, 2018

29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › Feuil3

Mutation Screening of 1,237 Cancer Genes across Six Model Cell Lines of Basal-Like Breast Cancer.

Olsson E et al.

Plos One, 2015

26670335 (PubMed )
Supplement: pone.0144528.s006.xlsx › TableS4
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