Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.Q233*
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ERCC5

NM_000123.4:p.Q233*

Associated Papers

XPG: a multitasking genome caretaker.

Muniesa-Vargas A et al.

Cellular and Molecular Life Sciences : Cmls, 2022

Whole genome sequencing of skull-base chordoma reveals genomic alterations associated with recurrence and chordoma-specific survival.

Bai J et al.

Nature Communications, 2021

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

Panigrahi I et al.

American Journal of Medical Genetics. Part A, 2021

Phenotypic variability in xeroderma pigmentosum group G: An uncommon case with severe prenatal-onset Cockayne syndrome features.

Ricotti R et al.

Clinical Genetics, 2018

Novel germline ERCC5 mutations identified in a xeroderma pigmentosum complementation group G pedigree.

Wang T et al.

Jaad Case Reports, 2015

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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."