Varaico: Literature-Extracted Genetic Variants

Gene:ACVR1
Variant:p.R258M
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ACVR1

NM_001111067.4:p.R258M

Associated Papers

Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.

Sakthikumar S et al.

Veterinary and Comparative Oncology, 2023

37248814 (PubMed )
Supplement: supplement_1.xlsx › Supp._Table_5

A case of Fibrodysplasia Ossificans Progressiva associated with a novel variant of the ACVR1 gene.

Cappato S et al.

Molecular Genetics & Genomic Medicine, 2021

Identification of pathogenic missense mutations using protein stability predictors.

Gerasimavicius L et al.

Scientific Reports, 2020

32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."