Varaico: Literature-Extracted Genetic Variants

Gene:SCAP
Variant:p.R121W
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SCAP

NM_012235.4:p.R121W

Associated Papers

The oligogenic inheritance test GCOD detects risk genes and their interactions in congenital heart defects.

Pittman M et al.

Genome Research, 2026

41386981 (PubMed )
Supplement: Supplemental_Tables.xlsx › S9

EM-mosaic detects mosaic point mutations that contribute to congenital heart disease.

Hsieh A et al.

Genome Medicine, 2020

32349777 (PubMed )
Supplement: 13073_2020_738_MOESM1_ESM.xlsx › Table_S3_All_EM-mosaic_Mosaics

Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects.

Edwards JJ et al.

Jacc. Basic to Translational Science, 2020

32368696 (PubMed )
Supplement: mmc3.xlsx › Cases

De novo variants in exomes of congenital heart disease patients identify risk genes and pathways.

Sevim Bayrak C et al.

Genome Medicine, 2020

31941532 (PubMed )
Supplement: 13073_2019_709_MOESM1_ESM.xlsx › S2
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."