Varaico: Literature-Extracted Genetic Variants

Gene:FN1
Variant:p.D767delFs
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FN1

NM_212482.4:p.D767delFs

Associated Papers

Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.

Yan D et al.

Journal of Human Genetics, 2009

Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.

Aller E et al.

Journal of Medical Genetics, 2006

Novel mutations in MYO7A and USH2A in Usher syndrome.

Maubaret C et al.

Ophthalmic Genetics, 2005

Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype.

Schwartz SB et al.

Investigative Ophthalmology & Visual Science, 2005

Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments.

Aller E et al.

European Journal of Human Genetics : Ejhg, 2004

Mutational spectrum in Usher syndrome type II.

Ouyang XM et al.

Clinical Genetics, 2004

Identification of novel USH2A mutations: implications for the structure of USH2A protein.

Dreyer B et al.

European Journal of Human Genetics : Ejhg, 2000

Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.

Weston MD et al.

American Journal of Human Genetics, 2000

[Syndromic hereditary deafness. Usher's syndrome. Oto-neurologic and genetic factors].

Espinós C et al.

Anales Otorrinolaringologicos Ibero-americanos, 1999

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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."