Varaico: Literature-Extracted Genetic Variants

Gene:TMEM107
Variant:p.L134F
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TMEM107

NM_032354.5:p.L134F

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

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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."