Varaico: Literature-Extracted Genetic Variants

Gene:MMUT
Variant:p.K251_H252Splc
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MMUT

NM_000255.4:p.K251_H252Splc

Associated Papers

Biochemical and molecular characteristics of patients with organic acidaemias and urea cycle disorders identified through newborn screening.

Barends M et al.

Molecular Genetics and Metabolism, 0

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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."