Varaico: Literature-Extracted Genetic Variants

Gene:AQP1
Variant:p.R126C
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AQP1

NM_198098.4:p.R126C

Associated Papers

Clinical Implications of the Genetic Background in Pediatric Pulmonary Arterial Hypertension: Data from the Spanish REHIPED Registry.

Cruz-Utrilla A et al.

International Journal of Molecular Sciences, 2022

36142358 (PubMed )
Supplement: ijms-23-10433-s001.zip › Table_S1.pdf

Description of Two New Cases of AQP1 Related Pulmonary Arterial Hypertension and Review of the Literature.

Gallego-Zazo N et al.

Genes, 2022

Gene panel diagnostics reveals new pathogenic variants in pulmonary arterial hypertension.

Eichstaedt CA et al.

Respiratory Research, 2022

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.

Gräf S et al.

Nature Communications, 2018

29650961 (PubMed )
Supplement: 41467_2018_3672_MOESM3_ESM.xlsx › Suppl._Dataset_3
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