Varaico: Literature-Extracted Genetic Variants

Gene:PHKB
Variant:p.V573_P577del5
Back to variants list

PHKB

NM_000293.3:p.V573_P577del5

Associated Papers

Glycogen Storage Disorder Type IXb: Exploring Clinical Patterns and Genetic Insights Into a Rare Phosphorylase Kinase B (PHKB)-Associated Case.

Venkata Renuka I et al.

Cureus, 2024

Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies.

Davit-Spraul A et al.

Molecular Genetics and Metabolism, 0

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."