Varaico: Literature-Extracted Genetic Variants

Gene:SSR4
Variant:p.F49fs
Back to variants list

SSR4

NM_006280.3:p.F49fs

Associated Papers

Case Report: The novel hemizygous mutation in the SSR4 gene caused congenital disorder of glycosylation type iy: A case study and literature review.

Wang J et al.

Frontiers in Genetics, 2022

Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.

Medrano C et al.

Clinical Genetics, 2019

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."