Varaico: Literature-Extracted Genetic Variants

Gene:MKKS
Variant:p.P232P
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MKKS

NM_170784.3:p.P232P

Associated Papers

Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly.

Schaefer E et al.

Molecular Syndromology, 2011

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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."