Varaico: Literature-Extracted Genetic Variants

Gene:MKKS
Variant:p.S40*
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MKKS

NM_170784.3:p.S40*

Associated Papers

Sequence variants in different genes underlying Bardet-Biedl syndrome in four consanguineous families.

Ali A et al.

Molecular Biology Reports, 2023

Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet-Biedl Syndrome.

Nawaz H et al.

Genes, 2023

Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.

Ullah A et al.

Molecular Vision, 2017

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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."