Varaico: Literature-Extracted Genetic Variants

Gene:AKAP11
Variant:p.P336L
Back to variants list

AKAP11

NM_016248.4:p.P336L

Associated Papers

Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.

Bisarad P et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

41282771 (PubMed )
Supplement: media-1.xlsx › Supplementary_Table_3

A Germline Mutation in the C2 Domain of PLCγ2 Associated with Gain-of-Function Expands the Phenotype for PLCG2-Related Diseases.

Novice T et al.

Journal of Clinical Immunology, 2020

31853824 (PubMed )
Supplement: 10875_2019_731_MOESM1_ESM.xlsx › 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."