Varaico: Literature-Extracted Genetic Variants

Gene:MTFMT
Variant:p.C8Y
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MTFMT

NM_139242.4:p.C8Y

Associated Papers

Variable Clinical Manifestations of Xia-Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital.

Ritter AL et al.

American Journal of Medical Genetics. Part A, 2018

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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."