Varaico: Literature-Extracted Genetic Variants

Gene:RIPK2
Variant:p.L314insFs
Back to variants list

RIPK2

NM_003821.6:p.L314insFs

Associated Papers

In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration.

Hytönen MK et al.

Human Genetics, 2021

33835239 (PubMed )
Supplement: 439_2021_2279_MOESM6_ESM.xlsx › PRT_epil_1WGS_545controls_Reces
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."