Varaico: Literature-Extracted Genetic Variants

Gene:DLD
Variant:p.F244L
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DLD

NM_000108.5:p.F244L

Associated Papers

Maple syrup urine disease mutation spectrum in a cohort of 40 consanguineous patients and insilico analysis of novel mutations.

Abiri M et al.

Metabolic Brain Disease, 2019

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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."