Varaico: Literature-Extracted Genetic Variants

Gene:MKS1
Variant:p.F371del1
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MKS1

NM_017777.4:p.F371del1

Associated Papers

Bardet-Biedl Syndrome-Multiple Kaleidoscope Images: Insight into Mechanisms of Genotype-Phenotype Correlations.

Florea L et al.

Genes, 2021

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.

Leitch CC et al.

Nature Genetics, 2008

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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."