Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.L79delFs
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KCNQ1

NM_000218.3:p.L79delFs

Associated Papers

Hearing Screening Combined with Target Gene Panel Testing Increased Etiological Diagnostic Yield in Deaf Children.

Xie L et al.

Neural Plasticity, 2021

Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review.

Beheshtian M et al.

Archives of Iranian Medicine, 2016

Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients.

Miyagawa M et al.

Plos One, 2013

23967202 (PubMed )
Supplement: pone.0071381.s005.pdf

Atypical patterns of inheritance.

Gropman AL et al.

Seminars in Pediatric Neurology, 2007

The genetics of deafness.

Nance WE

Mental Retardation and Developmental Disabilities Research Reviews, 2003

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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."