Varaico: Literature-Extracted Genetic Variants

Gene:MKKS
Variant:p.C91insFs
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MKKS

NM_170784.3:p.C91insFs

Associated Papers

Characterizing Homozygous Variants in Bardet-Biedl Syndrome-Associated Genes Within Iranian Families: Unveiling a Founder Variant in BBS2, c.471G>A.

Feizabadi MH et al.

Biochemical Genetics, 2025

Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes.

Hjortshøj TD et al.

Human Mutation, 2010

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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."