Varaico: Literature-Extracted Genetic Variants

Gene:PHKB
Variant:p.Y167C
Back to variants list

PHKB

NM_000293.3:p.Y167C

Associated Papers

Glycogen storage disorder types IX: the mutation spectrum and ethnic distribution.

Geramizadeh B et al.

Orphanet Journal of Rare Diseases, 2024

Validation of a targeted gene panel sequencing for the diagnosis of hereditary chronic liver diseases.

Ronzoni L et al.

Frontiers in Genetics, 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."