Varaico: Literature-Extracted Genetic Variants

Gene:ACVR1
Variant:p.S41F
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ACVR1

NM_001111067.4:p.S41F

Associated Papers

Unlocking the Door for Precision Medicine in Rare Conditions: Structural and Functional Consequences of Missense ACVR1 Variants.

Nagar G et al.

Omics : a Journal of Integrative Biology, 2024

39288033 (PubMed )
Supplement: sj-pdf-1-omi-10.1089_omi.2024.0140.pdf

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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