Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.D34Splc
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PRH1

NM_001393989.1:p.D34Splc

Associated Papers

Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium.

van de Locht M et al.

The Journal of Clinical Investigation, 2021

Molecular basis of inherited antithrombin deficiency in Portuguese families: identification of genetic alterations and screening for additional thrombotic risk factors.

David D et al.

American Journal of Hematology, 2004

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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."