Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.A137G
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MMUT

NM_000255.4:p.A137G

Associated Papers

Compound Heterozygosis in AADC Deficiency and Its Complex Phenotype in Terms of AADC Protein Population.

Bisello G et al.

International Journal of Molecular Sciences, 2022

Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia

Şeker Yılmaz B et al.

Turkish Journal of Medical Sciences, 2021

Microarray based mutational analysis of patients with methylmalonic acidemia: identification of 10 novel mutations.

Dündar H et al.

Molecular Genetics and Metabolism, 2012

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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."