Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ERCC6L2

Variant:p.P923delFs

Back to variants list

ERCC6L2

NM_020207.7:p.P923delFs

hg38:chr9:95972517 GC>G

Associated Papers

First description of bone marrow failure syndrome in Spain caused by mutations in the ERCC6L2 gene.

Bandini P et al.

British Journal of Haematology, 2023

37696499 (PubMed )

Select a paper to view details

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."