Varaico: Literature-Extracted Genetic Variants

Gene:PHKB
Variant:p.Q191fs
Back to variants list

PHKB

NM_000293.3:p.Q191fs

Associated Papers

Neurological Characteristics of Pediatric Glycogen Storage Disease.

Muzetti JH et al.

Frontiers in Endocrinology, 2021

Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients.

Sperb-Ludwig F et al.

Molecular Genetics & Genomic Medicine, 2019

31508908 (PubMed )
Supplement: MGG3-7-e877-s001.xlsx › Plan1
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."