Varaico: Literature-Extracted Genetic Variants

Gene:MKKS
Variant:p.S236*
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MKKS

NM_170784.3:p.S236*

Associated Papers

Prenatal diagnosis of Bardet-Biedl syndrome in a case of hyperechogenic kidneys: Clinical use of DNA sequencing.

Garcia-Tizon Larroca S et al.

Clinical Case Reports, 2017

Bardet-Biedl Syndrome in Four Siblings: Clinical and Genetic Insights From a Rare Familial Cluster.

Jena D et al.

Aace Endocrinology and Diabetes, 0

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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."