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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MKS1

Variant:p.H271fs

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MKS1

NM_017777.4:p.H271fs

hg38:chr17:58213027 G>GN

Associated Papers

Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies.

Szymanska K et al.

Cilia, 2012

23351400 (PubMed )

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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."