Varaico: Literature-Extracted Genetic Variants

Gene:TMEM67
Variant:p.G821R
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TMEM67

NM_153704.6:p.G821R

Associated Papers

Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).

Otto EA et al.

Journal of Medical Genetics, 2009

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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."