Varaico: Literature-Extracted Genetic Variants

Gene:ACVRL1
Variant:p.P26L
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ACVRL1

NM_000020.3:p.P26L

Associated Papers

Mutation characteristics of cancer susceptibility genes in Chinese ovarian cancer patients.

Wang J et al.

Frontiers in Oncology, 2024

38817903 (PubMed )
Supplement: Table_3.xlsx › Sheet1

TGF-β receptor mutations and clinical prognosis in Chinese pediatric patients with idiopathic/hereditary pulmonary arterial hypertension.

Zhang X et al.

Pulmonary Circulation, 2022

Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.

Li Y et al.

Frontiers in Oncology, 2022

36387164 (PubMed )
Supplement: Table_1.xlsx › sheet1

A multicenter study assessing the prevalence of germline genetic alterations in Chinese gastric-cancer patients.

Zhang YJ et al.

Gastroenterology Report, 2021

34567566 (PubMed )
Supplement: goab020_supplementary_data.zip › 2020-457_Supplementary_Table_5.xlsx › Sheet1

Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations.

Gedge F et al.

The Journal of Molecular Diagnostics : Jmd, 2007

Clinical characteristics and prognosis analysis of idiopathic and hereditary pulmonary hypertension patients with ACVRL1 gene mutations.

Zhang X et al.

Pulmonary Circulation, 0

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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."