Varaico: Literature-Extracted Genetic Variants

Gene:CAD
Variant:p.Q540_A541Splc
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CAD

NM_004341.5:p.Q540_A541Splc

Associated Papers

Application of mutation analysis for the previously uncertain cases of adult-onset type II citrullinemia (CTLN2) and their clinical profiles.

Tanaka T et al.

The Tohoku Journal of Experimental Medicine, 2002

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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."