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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DNAJC6

Variant:p.R181_V182Splc

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DNAJC6

NM_001256864.2:p.R181_V182Splc

hg38:chr1:65366197 G>T

Associated Papers

Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations.

Nelen MR et al.

European Journal of Human Genetics : Ejhg, 1999

10234502 (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."