Varaico: Literature-Extracted Genetic Variants

Gene:MMS19
Variant:p.R65W
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MMS19

NM_022362.5:p.R65W

Associated Papers

The Cia1 and Cia2 subunits of the CTC mediate recognition of apo-FeS proteins with a C-terminal targeting complex recognition motif.

Buzuk A et al.

Biorxiv : the Preprint Server for Biology, 2025

40196589 (PubMed )
Supplement: media-1.docx

CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.

van Karnebeek CDM et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

38411040 (PubMed )
Supplement: NIHMS2049943-supplement-2.xlsx › batch_job
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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."