Varaico: Literature-Extracted Genetic Variants

Gene:NBEA
Variant:p.R2277*
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NBEA

NM_001385012.1:p.R2277*

Associated Papers

Single-cell sequencing reveals CD133+CD44--originating evolution and novel stemness related variants in human colorectal cancer.

Zhang X et al.

Ebiomedicine, 2022

35785618 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_2a

Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.

Nassir N et al.

Human Genomics, 2021

34802461 (PubMed )
Supplement: 40246_2021_368_MOESM2_ESM.xlsx › DbLOF

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.

Husson T et al.

Translational Psychiatry, 2020

32094338 (PubMed )
Supplement: 41398_2020_760_MOESM2_ESM.xlsx › De_novo

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.

Guo H et al.

Nature Communications, 2019

31616000 (PubMed )
Supplement: 41467_2019_12435_MOESM3_ESM.xls › Supp._Data_2

NBEA: Developmental disease gene with early generalized epilepsy phenotypes.

Mulhern MS et al.

Annals of Neurology, 2018

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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."