Varaico: Literature-Extracted Genetic Variants

Gene:AKAP7
Variant:p.E334K
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AKAP7

NM_016377.4:p.E334K

Associated Papers

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLMS04_het

Destabilization of mutated human PUS3 protein causes intellectual disability.

Lin TY et al.

Human Mutation, 2022

36125428 (PubMed )
Supplement: HUMU-43-2063-s002.xlsx › Pat._3_

Multiomics Characterization of Low-Grade Serous Ovarian Carcinoma Identifies Potential Biomarkers of MEK Inhibitor Sensitivity and Therapeutic Vulnerability.

Shrestha R et al.

Cancer Research, 2021

33441310 (PubMed )
Supplement: can-20-2222_supplemental_st1-st14_suppst1-st14.xlsx › S3
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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."