Varaico: Literature-Extracted Genetic Variants

Gene:ERCC6
Variant:p.E218Splc
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ERCC6

NM_000124.4:p.E218Splc

Associated Papers

Defects in meiosis I contribute to the genesis of androgenetic hydatidiform moles.

Rezaei M et al.

The Journal of Clinical Investigation, 2024

39545410 (PubMed )
Supplement: jci-134-170669-s068.xlsx › Supplemental_Table_2

Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes.

Stolarova L et al.

Biomedicines, 2020

33050356 (PubMed )
Supplement: biomedicines-08-00404-s001.zip › Supplementary_Tables.xlsx › TabS3

A possible cranio-oro-facial phenotype in Cockayne syndrome.

Bloch-Zupan A et al.

Orphanet Journal of Rare Diseases, 2013

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

Laugel V et al.

Human Mutation, 2010

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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."