Varaico: Literature-Extracted Genetic Variants

Gene:TMEM67
Variant:p.Q558_T559Splc
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TMEM67

NM_153704.6:p.Q558_T559Splc

Associated Papers

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).

Doherty D et al.

Journal of Medical Genetics, 2010

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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."