Varaico: Literature-Extracted Genetic Variants

Gene:ACVR1
Variant:p.Q207H
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ACVR1

NM_001111067.4:p.Q207H

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
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