Varaico: Literature-Extracted Genetic Variants

Gene:GJC2
Variant:p.A400E
Back to variants list

GJC2

NM_020435.4:p.A400E

Associated Papers

Identification of a Novel FLNC Truncating Variant in Fetal Tetralogy of Fallot: A Case Report and Review of the Literature.

Zhang Z et al.

Diagnostics (basel, Switzerland), 2025

41464097 (PubMed )
Supplement: diagnostics-15-03097-s001.zip › Table_S2.xls › Genetic_Analysis_Variant_List

Identification of GJC2 gene mutations in Chinese patients with Pelizaeus-Merzbacher-like disease.

Ji T et al.

Minerva Pediatrics, 2023

[Application value of whole exome sequencing in critically ill neonates with inherited diseases].

Chen YL et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2020

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7
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."