Varaico: Literature-Extracted Genetic Variants

Gene:GCDH
Variant:p.G117G
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GCDH

NM_000159.4:p.G117G

Associated Papers

Newborn screening for carnitine transporter defect in Bavaria and the long-term follow-up of the identified newborns and mothers: Assessing the benefit and possible harm based on 19 ½ years of experience.

Schiergens KA et al.

Molecular Genetics and Metabolism Reports, 2021

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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."