Varaico: Literature-Extracted Genetic Variants

Gene:TMEM231
Variant:p.M25K
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TMEM231

NM_001077416.2:p.M25K

Associated Papers

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

Li C et al.

Plos Biology, 2016

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.

Srour M et al.

American Journal of Human Genetics, 2015

Mutations in TMEM231 cause Joubert syndrome in French Canadians.

Srour M et al.

Journal of Medical Genetics, 2012

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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."