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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MKS1

Variant:p.Y325*

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MKS1

NM_017777.4:p.Y325*

hg38:chr17:58210708 A>C

Associated Papers

Clinical application of a phenotype-based NGS panel for differential diagnosis of inherited kidney disease and beyond.

Oh J et al.

Clinical Genetics, 2021

33095447 (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."