Varaico: Literature-Extracted Genetic Variants

Gene:GDF2
Variant:p.Q26*
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GDF2

NM_016204.4:p.Q26*

Associated Papers

A rare homozygous missense GDF2 (BMP9) mutation causing PAH in siblings: Does BMP10 status contribute?

Upton P et al.

American Journal of Medical Genetics. Part A, 2023

Hereditary pulmonary arterial hypertension burden in pediatrics: A single referral center experience.

Ishizuka M et al.

Frontiers in Pediatrics, 2023

Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an "HHT-like" syndrome in children.

Hodgson J et al.

Molecular Genetics & Genomic Medicine, 2021

Genetics and Genomics of Pediatric Pulmonary Arterial Hypertension.

Welch CL et al.

Genes, 2020

A homozygous variant in growth and differentiation factor 2 (GDF2) may cause lymphatic dysplasia with hydrothorax and nonimmune hydrops fetalis.

Aukema SM et al.

American Journal of Medical Genetics. Part A, 2020

Characterization of GDF2 Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension.

Hodgson J et al.

American Journal of Respiratory and Critical Care Medicine, 2020

Molecular genetic framework underlying pulmonary arterial hypertension.

Southgate L et al.

Nature Reviews. Cardiology, 2020

The role of genetics in pulmonary arterial hypertension.

Ma L et al.

The Journal of Pathology, 2017

Novel homozygous BMP9 nonsense mutation causes pulmonary arterial hypertension: a case report.

Wang G et al.

Bmc Pulmonary Medicine, 2016

Mutational landscape of mucinous ovarian carcinoma and its neoplastic precursors.

Ryland GL et al.

Genome Medicine, 2015

26257827 (PubMed )
Supplement: 13073_2015_210_MOESM1_ESM.xlsx › Table_S3
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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."