Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ4
Variant:p.G228C
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KCNQ4

NM_004700.4:p.G228C

Associated Papers

A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.

Carli D et al.

Jama Network Open, 2025

41105405 (PubMed )
Supplement: jamanetwopen-e2538198-s001.xlsx › eTable_3

Overlooked KCNQ4 variants augment the risk of hearing loss.

Oh KS et al.

Experimental & Molecular Medicine, 2023

Proactive functional classification of all possible missense single-nucleotide variants in KCNQ4.

Zheng H et al.

Genome Research, 2022

35760561 (PubMed )
Supplement: supp_gr.276562.122_Supplemental_Table_S5.xlsx › Supplemental_Table_S5
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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."