Varaico: Literature-Extracted Genetic Variants

Gene:ERCC6
Variant:p.D1249N
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ERCC6

NM_000124.4:p.D1249N

Associated Papers

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.

Maroofian R et al.

Brain : a Journal of Neurology, 2023

37517035 (PubMed )
Supplement: awad257_supplementary_data.zip › brain-2023-00192-File009.xlsx › Clinical_table

PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.

Mlakar V et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2019

30755224 (PubMed )
Supplement: 13046_2019_1066_MOESM1_ESM.xlsx › NGP

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Pritchard AL et al.

Plos One, 2018

29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › UK10K_DNArep

Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing.

Roberts L et al.

Investigative Ophthalmology & Visual Science, 2016

27898983 (PubMed )
Supplement: iovs-57-14-17_s03.xlsx › 226RetnetDATA2P6M6A0ORout
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