Varaico: Literature-Extracted Genetic Variants

Gene:KCNC2
Variant:p.D128E
Back to variants list

KCNC2

NM_139137.4:p.D128E

Associated Papers

Novel KCNC2 variant associated with developmental and epileptic encephalopathy.

Huo L et al.

International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2023

Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.

Álvarez-Prado ÁF et al.

Cell Reports. Medicine, 2023

36652909 (PubMed )
Supplement: mmc4.xlsx › BrM_Val18

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants.

Schwarz N et al.

Neurology, 2022

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."