Varaico: Literature-Extracted Genetic Variants

Gene:BOK
Variant:p.R86C
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BOK

NM_032515.5:p.R86C

Associated Papers

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

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
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