Varaico: Literature-Extracted Genetic Variants

Gene:NBEA
Variant:p.R2213*
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NBEA

NM_001385012.1:p.R2213*

Associated Papers

Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.

Galer PD et al.

American Journal of Human Genetics, 2020

32853554 (PubMed )
Supplement: mmc2.xlsx › S6

Latency and interval therapy affect the evolution in metastatic colorectal cancer.

Nikbakht H et al.

Scientific Reports, 2020

31953485 (PubMed )
Supplement: 41598_2020_57476_MOESM5_ESM.xlsx › All_non-silent_mutations

NBEA: Developmental disease gene with early generalized epilepsy phenotypes.

Mulhern MS et al.

Annals of Neurology, 2018

Genomic diagnosis for children with intellectual disability and/or developmental delay.

Bowling KM et al.

Genome Medicine, 2017

28554332 (PubMed )
Supplement: 13073_2017_433_MOESM2_ESM.xlsx › Sheet1
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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."