Varaico: Literature-Extracted Genetic Variants

Gene:ZNF142
Variant:p.E1395E
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ZNF142

NM_001379659.1:p.E1395E

Associated Papers

Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.

Khan K et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

31036918 (PubMed )
Supplement: NIHMS1530558-supplement-Supplementary___Appendix__online_only_material__etc__.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."