Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.L213F
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PAH

NM_000277.3:p.L213F

Associated Papers

Deep phenotyping of unaffected carriers of pathogenic BMPR2 variants screened for pulmonary arterial hypertension.

Tóth EN et al.

The European Respiratory Journal, 2024

38991711 (PubMed )
Supplement: ERJ-00442-2024.Supplement.pdf

The spectrum of TP53 mutations in Rwandan patients with gastric cancer.

Nzitakera A et al.

Genes and Environment : the Official Journal of the Japanese Environmental Mutagen Society, 2024

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.

Gräf S et al.

Nature Communications, 2018

29650961 (PubMed )
Supplement: 41467_2018_3672_MOESM1_ESM.xlsx › Suppl._Dataset_1
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