Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.L6L
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PAH

NM_000277.3:p.L6L

Associated Papers

Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.

Mao X et al.

Medicine, 2024

39969324 (PubMed )
Supplement: medi-103-e41064-s001.xlsx › S2

Genetics in pulmonary arterial hypertension in a large homogeneous Japanese population.

Gamou S et al.

Clinical Genetics, 2018

A burden of rare variants in BMPR2 and KCNK3 contributes to a risk of familial pulmonary arterial hypertension.

Higasa K et al.

Bmc Pulmonary Medicine, 2017

De novo mutations in the BMPR2 gene in patients with heritable pulmonary arterial hypertension.

Momose Y et al.

Annals of Human Genetics, 2015

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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."