Varaico: Literature-Extracted Genetic Variants

Gene:TEX50
Variant:p.Q132*
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TEX50

NM_001195190.3:p.Q132*

Associated Papers

De novo mutations in antithrombin deficiency: high frequency and heterogeneous mechanisms.

Garrido-Rodríguez P et al.

Haematologica, 2026

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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."