Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.P343S
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TERT

NM_198253.3:p.P343S

Associated Papers

A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1.

Giuffrida MG et al.

American Journal of Medical Genetics. Part A, 2020

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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."