Varaico: Literature-Extracted Genetic Variants

Gene:KIAA1614
Variant:p.R275H
Back to variants list

KIAA1614

NM_020950.2:p.R275H

Associated Papers

Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.

Yang N et al.

Bmc Pediatrics, 2024

38310242 (PubMed )
Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter

Systematic genomic and translational efficiency studies of uveal melanoma.

Johnson CP et al.

Plos One, 2017

28594900 (PubMed )
Supplement: pone.0178189.s004.xls › Sheet1
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."