Varaico: Literature-Extracted Genetic Variants

Gene:SEZ6
Variant:p.T59K
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SEZ6

NM_178860.5:p.T59K

Associated Papers

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies.

Niceta M et al.

American Journal of Human Genetics, 2015

25865493 (PubMed )
Supplement: mmc2.pdf
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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."