Varaico: Literature-Extracted Genetic Variants

Gene:ALDH7A1
Variant:p.V318L
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ALDH7A1

NM_001201377.2:p.V318L

Associated Papers

A cohort study of pyridoxine-dependent epilepsy and high prevalence of splice site IVS11+1G>A mutation in Chinese patients.

Xue J et al.

Epilepsy Research, 2015

Clinical diagnosis, treatment, and ALDH7A1 mutations in pyridoxine-dependent epilepsy in three Chinese infants.

Yang Z et al.

Plos One, 2014

[Advances in clinical and molecular genetic research on pyridoxine dependent epilepsy].

Yang ZX et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2013

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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."