Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A2
Variant:p.V977_E993del0
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SLC12A2

NM_001046.3:p.V977_E993del0

Associated Papers

De Novo SLC12A2 Variant Presenting as Congenital Hearing Loss With Vestibular Areflexia.

Ludin K et al.

American Journal of Medical Genetics. Part A, 2025

Minigene assay for verifying the splicing effects of the rare variants in the SLC12A2 gene at c.2930-1G>a.

Mengsi L et al.

Acta Oto-laryngologica, 2025

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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."