Varaico: Literature-Extracted Genetic Variants

Gene:NPHP1
Variant:p.E183fs
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NPHP1

NM_001128178.3:p.E183fs

Associated Papers

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

Srour M et al.

American Journal of Human Genetics, 2015

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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."