Varaico: Literature-Extracted Genetic Variants

Gene:SSR4
Variant:p.R90*
Back to variants list

SSR4

NM_001204526.1:p.R90*

Associated Papers

Clinical use of whole-genome sequencing in children with developmental delay or intellectual disability.

Xu J et al.

Bmc Medical Genomics, 2025

Novel SSR4 gene splice variant leads to congenital disorder of glycosylation, type Iy.

Li N et al.

Frontiers in Pediatrics, 2025

41210240 (PubMed )
Supplement: Datasheet1.zip › Supplementary_table.xlsx › Sheet1
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."