Varaico: Literature-Extracted Genetic Variants

Gene:SLC44A5
Variant:p.D138E
Back to variants list

SLC44A5

NM_001130058.2:p.D138E

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

XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Talukder AK et al.

Plos One, 2015

25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC11_ERR166336
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."