Varaico: Literature-Extracted Genetic Variants

Gene:TMEM138
Variant:p.M118L
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TMEM138

NM_016464.5:p.M118L

Associated Papers

Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.

Bruel AL et al.

Journal of Medical Genetics, 2017

MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone.

Li C et al.

Plos Biology, 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."