Varaico: Literature-Extracted Genetic Variants

Gene:AKAP13
Variant:p.I1248V
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AKAP13

NM_007200.5:p.I1248V

Associated Papers

Biallelic variants/mutations of IL1RAP in patients with steroid-sensitive nephrotic syndrome.

Niitsuma S et al.

International Immunology, 2020

Single nucleotide polymorphisms alter kinase anchoring and the subcellular targeting of A-kinase anchoring proteins.

Smith FD et al.

Proceedings of the National Academy of Sciences of the United States of America, 2018

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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."