Varaico: Literature-Extracted Genetic Variants

Gene:STAB2
Variant:p.G785E
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STAB2

NM_017564.10:p.G785E

Associated Papers

Rare variants in STAB2 in patients with chronic thromboembolic pulmonary hypertension.

Dodson MW et al.

Erj Open Research, 2025

Whole-exome sequencing identifies rare variants in STAB2 associated with venous thromboembolic disease.

Desch KC et al.

Blood, 2020

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Fichna JP et al.

Human Genomics, 2018

29970176 (PubMed )
Supplement: 40246_2018_167_MOESM3_ESM.xlsx › skeletal_muscle
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