Varaico: Literature-Extracted Genetic Variants

Gene:DCPS
Variant:p.Q212_L213Splc
Back to variants list

DCPS

NM_014026.6:p.Q212_L213Splc

Associated Papers

The first case of Al-Raqad syndrome in Japan is associated with a homozygous DCPS exonic variant resulting in aberrant splicing.

Nozaki H et al.

Brain & Development, 2025

Creatine mitigates neurogenesis impairment caused by defective DcpS decapping.

Yang J et al.

Scientific Reports, 2025

mRNA-Decapping Associated DcpS Enzyme Controls Critical Steps of Neuronal Development.

Salamon I et al.

Cerebral Cortex (new York, N.y. : 1991), 2022

Leukoencephalopathy in Al-Raqad syndrome: Expanding the clinical and neuroimaging features caused by a biallelic novel missense variant in DCPS.

Masoudi M et al.

American Journal of Medical Genetics. Part A, 2020

An additional patient with a homozygous mutation in DCPS contributes to the delination of Al-Raqad syndrome.

Alesi V et al.

American Journal of Medical Genetics. Part A, 2018

Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.

Harripaul R et al.

Molecular Psychiatry, 2018

Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment.

Ahmed I et al.

Human Molecular Genetics, 2015

Loss of the scavenger mRNA decapping enzyme DCPS causes syndromic intellectual disability with neuromuscular defects.

Ng CK et al.

Human Molecular Genetics, 2015

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."