Varaico: Literature-Extracted Genetic Variants

Gene:ALPK2
Variant:p.P826T
Back to variants list

ALPK2

NM_052947.4:p.P826T

Associated Papers

Sequence variants with large effects on cardiac electrophysiology and disease.

Norland K et al.

Nature Communications, 2019

31641117 (PubMed )
Supplement: 41467_2019_12682_MOESM17_ESM.xlsx › Sheet1

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Fichna JP et al.

Human Genomics, 2018

29970176 (PubMed )
Supplement: 40246_2018_167_MOESM3_ESM.xlsx › skeletal_muscle

Novel mutations target distinct subgroups of medulloblastoma.

Robinson G et al.

Nature, 2012

22722829 (PubMed )
Supplement: NIHMS374717-supplement-table_9.xlsx › Tier1
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."