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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ERCC5

Variant:p.L733_E734Splc

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ERCC5

NM_000123.4:p.L733_E734Splc

hg38:chr13:102866252 C>G

Associated Papers

XPG: a multitasking genome caretaker.

Muniesa-Vargas A et al.

Cellular and Molecular Life Sciences : Cmls, 2022

35230528 (PubMed )

COFS type 3 in an Indian family with antenatally detected arthrogryposis.

Panigrahi I et al.

American Journal of Medical Genetics. Part A, 2021

33219753 (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."