Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.L345*
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ERCC5

NM_000123.4:p.L345*

Associated Papers

XPG: a multitasking genome caretaker.

Muniesa-Vargas A et al.

Cellular and Molecular Life Sciences : Cmls, 2022

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

Panigrahi I et al.

American Journal of Medical Genetics. Part A, 2021

Prenatal diagnosis of cerebro-oculo-facio-skeletal syndrome: Report of three fetuses and review of the literature.

Le Van Quyen P et al.

American Journal of Medical Genetics. Part A, 2020

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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."