Varaico: Literature-Extracted Genetic Variants

Gene:DBT
Variant:p.M477R
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DBT

NM_001918.5:p.M477R

Associated Papers

Identification of three novel mutations by studying the molecular genetics of Maple Syrup Urine Disease (MSUD) in the Lebanese population.

Tabbouche O et al.

Molecular Genetics and Metabolism Reports, 2014

Maple syrup urine disease: further evidence that newborn screening may fail to identify variant forms.

Puckett RL et al.

Molecular Genetics and Metabolism, 2010

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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."