Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.R103_Q109delFs
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MMUT

NM_000255.4:p.R103_Q109delFs

Associated Papers

Whole exome sequencing in pediatric hyperammonemia: significant diagnostic yield and identification of three novel variants.

Hajati R et al.

Bmc Medical Genomics, 2025

Spectrum of genetic mutations in methylmalonic aciduria among Iranian patients.

Fathi M et al.

Scientific Reports, 2025

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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."