Varaico: Literature-Extracted Genetic Variants

Gene:GCDH
Variant:p.L130L
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GCDH

NM_000159.4:p.L130L

Associated Papers

Insights into National Laboratory Newborn Screening and Future Prospects.

Mujamammi AH

Medicina (kaunas, Lithuania), 2022

Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1.

Wang Q et al.

Brain & Development, 2014

[Clinical and laboratory studies on 28 patients with glutaric aciduria type 1].

Wang Q et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2014

Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations.

Goodman SI et al.

Human Mutation, 1998

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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."