Varaico: Literature-Extracted Genetic Variants

Gene:NF2
Variant:p.M519V
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NF2

NM_000268.4:p.M519V

Associated Papers

Strategies for genetic study of hearing loss in the Brazilian northeastern region.

Melo US et al.

International Journal of Molecular Epidemiology and Genetics, 2014

The pharmacological chaperone AT2220 increases the specific activity and lysosomal delivery of mutant acid alpha-glucosidase, and promotes glycogen reduction in a transgenic mouse model of Pompe disease.

Khanna R et al.

Plos One, 2014

Infant hearing loss: from diagnosis to therapy Official Report of XXI Conference of Italian Society of Pediatric Otorhinolaryngology.

Paludetti G et al.

Acta Otorhinolaryngologica Italica : Organo Ufficiale Della Societa Italiana Di Otorinolaringologia E Chirurgia Cervico-facciale, 2012

Mitochondrial dysfunction in hearing loss.

Fischel-Ghodsian N et al.

Mitochondrion, 2004

Isepamicin sulfate-induced sensorineural hearing loss in patients with the 1555 A-->G mitochondrial mutation.

Usami S et al.

Orl; Journal for Oto-rhino-laryngology and Its Related Specialties, 0

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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."