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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MRPS22

Variant:p.R216_T217Splc

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MRPS22

NM_020191.4:p.R216_T217Splc

hg38:chr3:139350323 G>T

Associated Papers

MRPS Genes Causing Leukoencephalopathy With Profound Cerebral Folate Deficiency in Adults.

Mandia D et al.

Journal of Inherited Metabolic Disease, 2026

41506652 (PubMed )

Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus callosum defect.

Boutaud L et al.

Brain : a Journal of Neurology, 2023

36349561 (PubMed )

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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."