Varaico: Literature-Extracted Genetic Variants

Gene:DEPDC5
Variant:p.R567*
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DEPDC5

NM_001242896.3:p.R567*

Associated Papers

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.

Chen S et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Seizure features and outcomes in 50 children with GATOR1 variants: A retrospective study, more favorable for epilepsy surgery.

Wang H et al.

Epilepsia Open, 2023

37259768 (PubMed )
Supplement: EPI4-8-969-s002.pdf

Trans-Ancestry Mutation Landscape of Hepatoblastoma Genomes in Children.

Liu J et al.

Frontiers in Oncology, 2021

33968779 (PubMed )
Supplement: Table_2.xls › BRAZIL_PMID32432034_

Insights Into the Somatic Mutation Burden of Hepatoblastomas From Brazilian Patients.

Aguiar TFM et al.

Frontiers in Oncology, 2020

From somatic variants towards precision oncology: Evidence-driven reporting of treatment options in molecular tumor boards.

Perera-Bel J et al.

Genome Medicine, 2018

29544535 (PubMed )
Supplement: 13073_2018_529_MOESM2_ESM.xlsx › MASTER-07
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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."