Varaico: Literature-Extracted Genetic Variants

Gene:ERCC6L2
Variant:p.R973_G975delFs
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ERCC6L2

NM_020207.7:p.R973_G975delFs

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

The clinical picture of ERCC6L2 disease: from bone marrow failure to acute leukemia.

Hakkarainen M et al.

Blood, 2023

Emerging bone marrow failure syndromes- new pieces to an unsolved puzzle.

Feurstein S

Frontiers in Oncology, 2023

37091189 (PubMed )
Supplement: Table_1.xlsx › ERCC6L2
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