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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:POLR1C

Variant:p.F308Splc

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POLR1C

NM_203290.4:p.F308Splc

hg38:chr6:43521049 G>C

Associated Papers

Nationwide, Couple-Based Genetic Carrier Screening.

Kirk EP et al.

The New England Journal of Medicine, 2024

39565987 (PubMed )

Supplement: nejmoa2314768_appendix.pdf

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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."