Varaico: Literature-Extracted Genetic Variants

Gene:ELP1
Variant:p.A1191Splc
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ELP1

NM_003640.5:p.A1191Splc

Associated Papers

Frequency of pathogenic germline variants in pediatric medulloblastoma survivors.

Rees D et al.

Frontiers in Oncology, 2024

39184053 (PubMed )
Supplement: DataSheet_2.xlsx › Supp_Table_3

Splicing-Disrupting Mutations in Inherited Predisposition to Solid Pediatric Cancer.

Alba-Pavón P et al.

Cancers, 2022

Germline Elongator mutations in Sonic Hedgehog medulloblastoma.

Waszak SM et al.

Nature, 2020

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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."