Varaico: Literature-Extracted Genetic Variants

Gene:TMEM107
Variant:p.E125G
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TMEM107

NM_183065.4:p.E125G

Associated Papers

TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.

Lambacher NJ et al.

Nature Cell Biology, 2016

Forward genetics uncovers Transmembrane protein 107 as a novel factor required for ciliogenesis and Sonic hedgehog signaling.

Christopher KJ et al.

Developmental Biology, 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."