Varaico: Literature-Extracted Genetic Variants

Gene:ELP1
Variant:p.P214delFs
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ELP1

NM_003640.5:p.P214delFs

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

The transcriptional landscape of Shh medulloblastoma.

Skowron P et al.

Nature Communications, 2021

33741928 (PubMed )
Supplement: 41467_2021_21883_MOESM5_ESM.xlsx › _B__Functional_Mutations

Germline Elongator mutations in Sonic Hedgehog medulloblastoma.

Waszak SM et al.

Nature, 2020

Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Capalbo A et al.

Plos Genetics, 2019

31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
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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."