Varaico: Literature-Extracted Genetic Variants

Gene:CCDC91
Variant:p.K242N
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CCDC91

NM_018318.5:p.K242N

Associated Papers

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

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 893.339
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