Varaico: Literature-Extracted Genetic Variants

Gene:GCDH
Variant:p.S190N
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GCDH

NM_000159.4:p.S190N

Associated Papers

Genotype and phenotype spectrum of 10 children with STXBP1 gene-related encephalopathy and epilepsy.

Dong M et al.

Frontiers in Pediatrics, 2022

Early detection of glutaric aciduria type I by newborn screening in Taiwan.

Hsieh CT et al.

Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2008

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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."