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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MKKS

Variant:p.R23K

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MKKS

NM_170784.3:p.R23K

hg38:chr20:10413447 C>T

Associated Papers

Functional analysis of new human Bardet-Biedl syndrome loci specific variants in the zebrafish model.

Castro-Sánchez S et al.

Scientific Reports, 2019

31506453 (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."