Varaico: Literature-Extracted Genetic Variants

Gene:ACVR1
Variant:p.G43S
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ACVR1

NM_001111067.4:p.G43S

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

KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature.

Kumar K et al.

Bmc Medical Genetics, 2020

32590954 (PubMed )
Supplement: 12881_2020_1074_MOESM1_ESM.xlsx › Sheet1
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