Varaico: Literature-Extracted Genetic Variants

Gene:ERCC8
Variant:p.T134fs
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ERCC8

NM_000082.4:p.T134fs

Associated Papers

Identification and Characterization of a Novel Recurrent ERCC6 Variant in Patients with a Severe Form of Cockayne Syndrome B.

Zayoud K et al.

Genes, 2021

34946871 (PubMed )
Supplement: genes-12-01922-s001.zip › Supplementary_Table_S1_Zayoud_K.pdf

Cockayne syndrome group A and ferrochelatase finely tune ribosomal gene transcription and its response to UV irradiation.

Lanzafame M et al.

Nucleic Acids Research, 2021

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