Varaico: Literature-Extracted Genetic Variants

Gene:ALG13
Variant:p.A302V
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ALG13

NM_001257230.2:p.A302V

Associated Papers

Whole-exome and HLA sequencing in Febrile infection-related epilepsy syndrome.

Helbig I et al.

Annals of Clinical and Translational Neurology, 2020

Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.

Ittisoponpisan S et al.

Journal of the Endocrine Society, 2018

30019023 (PubMed )
Supplement: js.2018-00077.sd2.xls › Sheet1
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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."