Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.R1161Splc
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POLG

NM_002693.3:p.R1161Splc

Associated Papers

The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population.

Mahdieh N et al.

Human Genomics, 2024

Prospect of genetic disorders in Saudi Arabia.

Alqahtani AS et al.

Frontiers in Genetics, 2023

37799141 (PubMed )
Supplement: Table2.xlsx › Supplementary_table_2._

Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants.

Mahdieh N et al.

Scientific Reports, 2021

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