Varaico: Literature-Extracted Genetic Variants

Gene:MRPS23
Variant:p.P40L
Back to variants list

MRPS23

NM_016070.4:p.P40L

Associated Papers

MRPS Genes Causing Leukoencephalopathy With Profound Cerebral Folate Deficiency in Adults.

Mandia D et al.

Journal of Inherited Metabolic Disease, 2026

Genetic, metabolic and clinical delineation of an MRPS23-associated mitochondrial disorder.

Ittiwut C et al.

Scientific Reports, 2023

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."