Varaico: Literature-Extracted Genetic Variants

Gene:CHD7
Variant:p.Q2431*
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CHD7

NM_017780.4:p.Q2431*

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

Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes.

Sierant MC et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

40127276 (PubMed )
Supplement: pnas.2420343122.sapp.pdf

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Zhang Y et al.

Molecular Neurobiology, 2021

33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_

Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.

Audain E et al.

Plos Genetics, 2021

34324492 (PubMed )
Supplement: pgen.1009679.s019.xlsx › Sheet_B

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."