Varaico: Literature-Extracted Genetic Variants

Gene:CHCHD2
Variant:p.V140M
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CHCHD2

NM_016139.4:p.V140M

Associated Papers

A novel nonsense variant in SLC24A4 causing a rare form of amelogenesis imperfecta in a Pakistani family.

Khan SA et al.

Bmc Medical Genetics, 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."