Varaico: Literature-Extracted Genetic Variants

Gene:ERVFRD-1
Variant:p.K519E
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ERVFRD-1

NM_207582.3:p.K519E

Associated Papers

Molecular pathways in mitochondrial disorders due to a defective mitochondrial protein synthesis.

Antolínez-Fernández Á et al.

Frontiers in Cell and Developmental Biology, 2024

Rapid and Reliable Detection of Nonsyndromic Hearing Loss Mutations by Multicolor Melting Curve Analysis.

Wang X et al.

Scientific Reports, 2017

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

[Analysis of mitochondrial 12S rRNA and tRNA(Ser(UCN)) genes in patients with nonsyndromic sensorineural hearing loss from various regions of Russia].

Dzhemileva LU et al.

Genetika, 2009

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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."