Varaico: Literature-Extracted Genetic Variants

Gene:NDUFA12
Variant:p.F28fs
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NDUFA12

NM_018838.5:p.F28fs

Associated Papers

Autosomal recessive Leber hereditary optic neuropathy, a new neuro-ophthalmo-genetic paradigm.

Lenaers G et al.

Brain : a Journal of Neurology, 2023

Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy.

Magrinelli F et al.

Movement Disorders Clinical Practice, 2022

Multi-omics analysis defines core genomic alterations in pheochromocytomas and paragangliomas.

Castro-Vega LJ et al.

Nature Communications, 2015

25625332 (PubMed )
Supplement: ncomms7044-s3.xlsx › Supplementary_Data_2
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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."