Varaico: Literature-Extracted Genetic Variants

Gene:MYO7A
Variant:p.L1866L
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MYO7A

NM_000260.4:p.L1866L

Associated Papers

Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report.

Varga L et al.

Bmc Medical Genetics, 2019

Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.

Le Quesne Stabej P et al.

Journal of Medical Genetics, 2012

22135276 (PubMed )
Supplement: jmedgenet-2011-100468-s5.pdf

Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.

Jaijo T et al.

Investigative Ophthalmology & Visual Science, 2010

High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays.

Kothiyal P et al.

Bmc Biotechnology, 2010

20146813 (PubMed )
Supplement: 1472-6750-10-10-S1.PDF

MYO7A mutation screening in Usher syndrome type I patients from diverse origins.

Jaijo T et al.

Journal of Medical Genetics, 2007

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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."