Varaico: Literature-Extracted Genetic Variants

Gene:AKAP9
Variant:p.R1751C
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AKAP9

NM_005751.5:p.R1751C

Associated Papers

Arab founder variants: Contributions to clinical genomics and precision medicine.

AlAbdi L et al.

Med (new York, N.y.), 2025

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.

AlAbdi L et al.

Nature Communications, 2023

37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM17_ESM.xlsx › Sheet1

A genomics approach to male infertility.

Alhathal N et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

Temko D et al.

The Journal of Pathology, 2018

29604063 (PubMed )
Supplement: PATH-245-283-s022.xlsx › CRC.Drivers.Edited
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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."