Varaico: Literature-Extracted Genetic Variants

Gene:CTSZ
Variant:p.T236I
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CTSZ

NM_001336.4:p.T236I

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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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."