Varaico: Literature-Extracted Genetic Variants

Gene:GCDH
Variant:p.G391_N392insFs
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GCDH

NM_000159.4:p.G391_N392insFs

Associated Papers

Concordance Between Biochemical and Molecular Diagnosis Obtained by WES in Mexican Patients with Inborn Errors of Intermediary Metabolism: Utility for Therapeutic Management.

Vela-Amieva M et al.

International Journal of Molecular Sciences, 2024

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

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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."