Varaico: Literature-Extracted Genetic Variants

Gene:CASK
Variant:p.R618K
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CASK

NM_001367721.1:p.R618K

Associated Papers

Whole-exome sequencing with targeted analysis and epilepsy after acute symptomatic neonatal seizures.

Numis AL et al.

Pediatric Research, 2022

Polymorphisms in mitochondrial ribosomal protein S5 (MRPS5) are associated with leprosy risk in Chinese.

Xing Y et al.

Plos Neglected Tropical Diseases, 2020

33362202 (PubMed )
Supplement: pntd.0008883.s010.xlsx › S9-rare_variants_in_8_families

Genomic analysis identifies masqueraders of full-term cerebral palsy.

Takezawa Y et al.

Annals of Clinical and Translational Neurology, 2018

29761117 (PubMed )
Supplement: ACN3-5-538-s001.xlsx › 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."