Varaico: Literature-Extracted Genetic Variants

Gene:EXOC1
Variant:p.R124W
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EXOC1

NM_001024924.2:p.R124W

Associated Papers

Sequential Defects in Cardiac Lineage Commitment and Maturation Cause Hypoplastic Left Heart Syndrome.

Krane M et al.

Circulation, 2021

34694888 (PubMed )
Supplement: cir-144-1409-s001.xlsx › 1D_WES_results_PCGC_cohort

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

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.

Qin Z et al.

Frontiers in Genetics, 2020

32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_2.XLSX › patient_2

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.

Kosmicki JA et al.

Nature Genetics, 2017

28191890 (PubMed )
Supplement: NIHMS845776-supplement-5.xlsx › Congenital_Heart_Disease
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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."