Varaico: Literature-Extracted Genetic Variants

Gene:MKKS
Variant:p.A96V
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MKKS

NM_170784.3:p.A96V

Associated Papers

Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees.

Rao AR et al.

Genes, 2023

Novel sequence variants in the MKKS gene cause Bardet-Biedl syndrome with intra- and inter-familial variable phenotypes.

Ullah A et al.

Congenital Anomalies, 2018

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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."