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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NR1I3

Variant:p.F247S

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NR1I3

NM_001077482.3:p.F247S

hg38:chr1:161231200 A>G

Associated Papers

Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.

Kleefstra T et al.

American Journal of Human Genetics, 2012

22726846 (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."