Varaico: Literature-Extracted Genetic Variants

Gene:LYRM7
Variant:p.T13delFs
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LYRM7

NM_181705.4:p.T13delFs

Associated Papers

Pathological variants in nuclear genes causing mitochondrial complex III deficiency: An update.

Čunátová K et al.

Journal of Inherited Metabolic Disease, 2024

39053894 (PubMed )
Supplement: JIMD-47-1278-s002.xlsx › Supplementary_Table_1

LYRM7-associated mitochondrial complex III deficiency with non-cavitating leukoencephalopathy and stroke-like episodes.

Alfattal R et al.

American Journal of Medical Genetics. Part A, 2023

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.

Dallabona C et al.

Brain : a Journal of Neurology, 2016

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