Varaico: Literature-Extracted Genetic Variants

Gene:MTSS1
Variant:p.K333R
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MTSS1

NM_014751.6:p.K333R

Associated Papers

Molecular analysis of 51 unrelated pedigrees with late-onset multiple acyl-CoA dehydrogenation deficiency (MADD) in southern China confirmed the most common ETFDH mutation and high carrier frequency of c.250G>A.

Wang ZQ et al.

Journal of Molecular Medicine (berlin, Germany), 2011

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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."