Varaico: Literature-Extracted Genetic Variants

Gene:LIAS
Variant:p.D215E
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LIAS

NM_006859.4:p.D215E

Associated Papers

Novel LIAS variants in a patient with epilepsy and profound developmental disabilities.

Wongkittichote P et al.

Molecular Genetics and Metabolism, 2023

Novel compound heterozygous LIAS mutations cause glycine encephalopathy.

Tsurusaki Y et al.

Journal of Human Genetics, 2015

Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.

Baker PR et al.

Brain : a Journal of Neurology, 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."