Associated Papers
Liver Involvement in POLG Disease-a Multicentre Cohort Study of 202 Patients.
Kristensen E et al.
Journal of Inherited Metabolic Disease, 2025
Molecular diagnosis of patients with syndromic short stature identified by trio whole-exome sequencing.
Sun H et al.
Frontiers in Genetics, 2024
The disease-causing mutation p.F907I reveals a novel pathogenic mechanism for POLγ-related diseases.
Erdinc D et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2023
A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma.
Siibak T et al.
Human Molecular Genetics, 2017
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