Varaico: Literature-Extracted Genetic Variants

Gene:CDS1
Variant:p.G48A
Back to variants list

CDS1

NM_001263.4:p.G48A

Associated Papers

Neurodevelopmental Syndrome with Intellectual Disability, Speech Impairment, and Quadrupedia Is Associated with Glutamate Receptor Delta 2 Gene Defect.

Grigorenko AP et al.

Cells, 2022

35159210 (PubMed )
Supplement: cells-11-00400-s001.zip › cells-1522047_Supplemental_Data.pdf

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1871.656
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."