Varaico: Literature-Extracted Genetic Variants

Gene:DENND5A
Variant:p.R772*
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DENND5A

NM_015213.4:p.R772*

Associated Papers

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.

Banks E et al.

Nature Communications, 2024

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.

Banks E et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

The genomic landscape of pediatric renal cell carcinomas.

Beck P et al.

Iscience, 2022

35445187 (PubMed )
Supplement: mmc3.xlsx › DKFZ_SNVs_and_indels_pipeline

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_9
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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."