Varaico: Literature-Extracted Genetic Variants

Gene:GSS
Variant:p.R125L
Back to variants list

GSS

NM_000178.4:p.R125L

Associated Papers

Case report: A Chinese patient with glutathione synthetase deficiency and a novel glutathione synthase mutation.

Wu X et al.

Frontiers in Pediatrics, 2023

Detection of new pathogenic mutations in patients with congenital haemolytic anaemia using next-generation sequencing.

Del Orbe Barreto R et al.

International Journal of Laboratory Hematology, 2016

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."