Varaico: Literature-Extracted Genetic Variants

Gene:TMTC3
Variant:p.M1I
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TMTC3

NM_181783.4:p.M1I

Associated Papers

A Report on a Family with TMTC3-Related Syndrome and Review.

Hana S et al.

Case Reports in Medicine, 2020

Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.

Jerber J et al.

American Journal of Human Genetics, 2016

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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."