Varaico: Literature-Extracted Genetic Variants

Gene:AASS
Variant:p.L20P
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AASS

NM_005763.4:p.L20P

Associated Papers

Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression.

Gorman GS et al.

Clinical Science (london, England : 1979), 2015

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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."