Varaico: Literature-Extracted Genetic Variants

Gene:NUDT2
Variant:p.A63fs
Back to variants list

NUDT2

NM_001161.5:p.A63fs

Associated Papers

Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.

Husain RA et al.

Brain : a Journal of Neurology, 2024

The first case of intellectual disability caused by novel compound heterozygosity for NUDT2 variants.

Bi B et al.

Bmc Pediatrics, 2024

Novel NUDT2 variant causes intellectual disability and polyneuropathy.

Diaz F et al.

Annals of Clinical and Translational Neurology, 2020

A founder nonsense variant in NUDT2 causes a recessive neurodevelopmental disorder in Saudi Arab children.

Yavuz H et al.

Clinical Genetics, 2018

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."