Varaico: Literature-Extracted Genetic Variants

Gene:CALHM3
Variant:p.E79G
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CALHM3

NM_001129742.2:p.E79G

Associated Papers

Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.

Athota JP et al.

Bmc Medical Genetics, 2020

Study of mutations in Jordanian patients with haemophilia A: identification of five novel mutations.

Awidi A et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2010

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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."