Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.R12delFs
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KCNQ1

NM_000218.3:p.R12delFs

Associated Papers

Founder Variants of the Turkish.

Kablan A

Clinical Genetics, 2026

Etiological Work-up in Referrals From Neonatal Hearing Screening: 20 Years of Experience.

Boudewyns A et al.

Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2020

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Cooper DN et al.

Human Genetics, 2013

Diverse deafness mechanisms of connexin mutations revealed by studies using in vitro approaches and mouse models.

Hoang Dinh E et al.

Brain Research, 2009

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."