Varaico: Literature-Extracted Genetic Variants

Gene:DDRGK1
Variant:p.E136_A137Splc
Back to variants list

DDRGK1

NM_023935.3:p.E136_A137Splc

Associated Papers

A guide to UFMylation, an emerging posttranslational modification.

Millrine D et al.

The Febs Journal, 2023

The UFM1 conjugation system in mammalian development.

Yang S et al.

Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2023

Loss of DDRGK1 impairs IRE1α UFMylation in spondyloepiphyseal dysplasia.

Yang X et al.

International Journal of Biological Sciences, 2023

Shohat type-spondyloepimetaphyseal dysplasia: Further phenotypic delineation.

Otaify GA et al.

European Journal of Medical Genetics, 2022

A missense mutation in DDRGK1 gene associated to Shohat-type spondyloepimetaphyseal dysplasia: Two case reports and a review of literature.

Franceschi R et al.

American Journal of Medical Genetics. Part A, 2022

Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia.

Egunsola AT et al.

The Journal of Clinical Investigation, 2017

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."