Varaico: Literature-Extracted Genetic Variants

Gene:TLK1
Variant:p.E496G
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TLK1

NM_012290.5:p.E496G

Associated Papers

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Reijnders MRF et al.

American Journal of Human Genetics, 2018

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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."