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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TRIM54

Variant:p.R247C

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TRIM54

NM_187841.3:p.R247C

hg38:chr2:27305713 C>T

Associated Papers

OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variants.

Boudellioua I et al.

Scientific Reports, 2018

30279426 (PubMed )

Supplement: 41598_2018_32876_MOESM1_ESM.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."