Varaico: Literature-Extracted Genetic Variants

Gene:FN1
Variant:p.E1486G
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FN1

NM_212482.4:p.E1486G

Associated Papers

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

Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families.

Adato A et al.

Human Mutation, 2000

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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."