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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MKKS

Variant:p.G49V

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MKKS

NM_170784.3:p.G49V

hg38:chr20:10413369 C>A

Associated Papers

Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome.

Stone DL et al.

Nature Genetics, 2000

10802661 (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."