Varaico: Literature-Extracted Genetic Variants

Gene:PHKB
Variant:p.I192V
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PHKB

NM_000293.3:p.I192V

Associated Papers

Novel mutations in the PHKB gene in an iranian girl with severe liver involvement and glycogen storage disease type IX: a case report and review of literature.

Beyzaei Z et al.

Bmc Pediatrics, 2021

Liver histology in children with glycogen storage disorders type VI and IX.

Degrassi I et al.

Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 2021

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Fichna JP et al.

Human Genomics, 2018

29970176 (PubMed )
Supplement: 40246_2018_167_MOESM2_ESM.xlsx › together
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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."