Varaico: Literature-Extracted Genetic Variants

Gene:BAZ2A
Variant:p.R736Q
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BAZ2A

NM_001300905.2:p.R736Q

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

Rare Case of Ulnar-Mammary-Like Syndrome With Left Ventricular Tachycardia and Lack of TBX3 Mutation.

Zlotina A et al.

Frontiers in Genetics, 2018

29963074 (PubMed )
Supplement: Table_1.XLSX › ____1
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