Varaico: Literature-Extracted Genetic Variants

Gene:MMAA
Variant:p.T221del1
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MMAA

NM_172250.3:p.T221del1

Associated Papers

Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut.

Hörster F et al.

Journal of Inherited Metabolic Disease, 2021

Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.

Nizon M et al.

Orphanet Journal of Rare Diseases, 2013

Long-term outcome in methylmalonic aciduria: a series of 30 French patients.

Cosson MA et al.

Molecular Genetics and Metabolism, 2009

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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."