Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.L196F
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MMUT

NM_000255.4:p.L196F

Associated Papers

Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria.

Schnabel E et al.

Nutrients, 2023

Very long-term outcomes in 23 patients with cblA type methylmalonic acidemia.

Marelli C et al.

Journal of Inherited Metabolic Disease, 2022

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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."