Varaico: Literature-Extracted Genetic Variants

Gene:PTGIR
Variant:p.S319W
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PTGIR

NM_000960.4:p.S319W

Associated Papers

Rare loss-of-function mutations of PTGIR are enriched in fibromuscular dysplasia.

Georges A et al.

Cardiovascular Research, 2021

32531060 (PubMed )
Supplement: cvaa161_supplementary_data.docx

Comprehensive biochemical analysis of rare prostacyclin receptor variants: study of association of signaling with coronary artery obstruction.

Stitham J et al.

The Journal of Biological Chemistry, 2011

Arginine (CGC) codon targeting in the human prostacyclin receptor gene (PTGIR) and G-protein coupled receptors (GPCR).

Stitham J et al.

Gene, 2007

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