Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ10
Variant:p.A90V
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KCNJ10

NM_002241.5:p.A90V

Associated Papers

Heterozygous Variants in KCNJ10 Cause Paroxysmal Kinesigenic Dyskinesia Via Haploinsufficiency.

Li YL et al.

Annals of Neurology, 2024

38979912 (PubMed )
Supplement: supplement_1.docx

Functional studies of deafness-associated pendrin and prestin variants.

Takahashi S et al.

Biorxiv : the Preprint Server for Biology, 2024

Genetic analysis of SLC26A4 gene (pendrin) related deafness among a cohort of assortative mating families from southern India.

Chandru J et al.

European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2020

KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects.

Zhao J et al.

Plos One, 2014

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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."