Varaico: Literature-Extracted Genetic Variants

Gene:MTRR
Variant:p.R590Splc
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MTRR

NM_002454.3:p.R590Splc

Associated Papers

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Plos Genetics, 2025

40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39399040 (PubMed )
Supplement: media-1.xlsx › TableS2

Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants.

Brasil S et al.

Orphanet Journal of Rare Diseases, 2018

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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."