Varaico: Literature-Extracted Genetic Variants

Gene:GJC1
Variant:p.A310T
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GJC1

NM_005497.4:p.A310T

Associated Papers

Exome sequencing in multiplex families with left-sided cardiac defects has high yield for disease gene discovery.

Gordon DM et al.

Plos Genetics, 2022

35737725 (PubMed )
Supplement: pgen.1010236.s001.docx

Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns.

Li AH et al.

Genome Medicine, 2017

29089047 (PubMed )
Supplement: 13073_2017_482_MOESM6_ESM.xlsx › TableS5-_ClinicalCohortLookup
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