Varaico: Literature-Extracted Genetic Variants

Gene:GCDH
Variant:p.L370P
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GCDH

NM_000159.4:p.L370P

Associated Papers

A retrospective analysis of MS/MS screening for IEM in high-risk areas.

He X et al.

Bmc Medical Genomics, 2023

[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."