Varaico: Literature-Extracted Genetic Variants

Gene:SLITRK6
Variant:p.S297*
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SLITRK6

NM_032229.3:p.S297*

Associated Papers

A novel mutation in SLITRK6 causes deafness and myopia in a Moroccan family.

Salime S et al.

Gene, 2018

A homozygous SLITRK6 nonsense mutation is associated with progressive auditory neuropathy in humans.

Morlet T et al.

The Laryngoscope, 2014

SLITRK6 mutations cause myopia and deafness in humans and mice.

Tekin M et al.

The Journal of Clinical Investigation, 2013

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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."