Varaico: Literature-Extracted Genetic Variants

Gene:C19orf12
Variant:p.A56insFs
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C19orf12

NM_031448.6:p.A56insFs

Associated Papers

Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.

Molaei N et al.

Scientific Reports, 2025

41315541 (PubMed )
Supplement: 41598_2025_26836_MOESM1_ESM.xlsx › Table_1

An Update and Perspectives on Mitochondrial Membrane Protein-Associated Neurodegeneration and C19orf12 Research.

Gnutti B et al.

Brain Sciences, 2025

Genomic characterization of lymphomas in patients with inborn errors of immunity.

Ye X et al.

Blood Advances, 2022

35687490 (PubMed )
Supplement: advancesADV2021006654-suppl4.xlsx › PL4

Mitochondrial Membrane Protein-Associated Neurodegeneration: A Case Series of Six Children.

Incecik F et al.

Annals of Indian Academy of Neurology, 0

Genotype-Phenotype Correlations in MPAN Due to C19orf12 Variants.

Finsterer J

Annals of Indian Academy of Neurology, 0

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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."