Varaico: Literature-Extracted Genetic Variants

Gene:SLC4A11
Variant:p.G554_S561del8
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SLC4A11

NM_001174089.2:p.G554_S561del8

Associated Papers

Congenital hereditary endothelial dystrophy with progressive sensorineural deafness: a case report of Harboyan syndrome.

Karataş E et al.

Arquivos Brasileiros De Oftalmologia, 2024

[Hereditary progressive sensorineural deafness--report of 30 cases in 12 families].

Wang X

Zhonghua Yi Xue Za Zhi, 1983

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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."