Varaico: Literature-Extracted Genetic Variants

Gene:G6PC3
Variant:p.W73*
Back to variants list

G6PC3

NM_138387.4:p.W73*

Associated Papers

Molecular and Clinical Characterization of a Founder Mutation Causing G6PC3 Deficiency.

Zhen X et al.

Journal of Clinical Immunology, 2024

Molecular and clinical characterization of a founder mutation causing G6PC3 deficiency.

Zhen X et al.

Research Square, 2024

Molecular and clinical characterization of a founder mutation causing G6PC3 deficiency.

Zhen X et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Phenotypic Heterogeneity of Neutropenia and Gastrointestinal Illness Associated with G6PC3 Founder Mutation.

Glasser CL et al.

Journal of Pediatric Hematology/oncology, 2016

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."