Varaico: Literature-Extracted Genetic Variants

Gene:UFSP2
Variant:p.H428R
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UFSP2

NM_018359.5:p.H428R

Associated Papers

Studies on the functional role of UFMylation in cells (Review).

Qin R et al.

Molecular Medicine Reports, 2025

Genetic heterogeneity in epilepsy and comorbidities: insights from Pakistani families.

Yasin M et al.

Bmc Neurology, 2024

A guide to UFMylation, an emerging posttranslational modification.

Millrine D et al.

The Febs Journal, 2023

Variant of the catalytic cysteine of UFSP2 leads to spondyloepimetaphyseal dysplasia type Di Rocco.

Mattern L et al.

Bone Reports, 2023

A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy.

Ni M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

UFSP2-related spondyloepimetaphyseal dysplasia: A confirmatory report.

Zhang G et al.

European Journal of Medical Genetics, 2020

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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."