Varaico: Literature-Extracted Genetic Variants

Gene:RNF180
Variant:p.R390C
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RNF180

NM_001113561.2:p.R390C

Associated Papers

APOLD1 loss causes endothelial dysfunction involving cell junctions, cytoskeletal architecture, and Weibel-Palade bodies, while disrupting hemostasis.

Stritt S et al.

Haematologica, 2023

35638551 (PubMed )
Supplement: 2022_280816_STRITT_SUPPL.pdf
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