Varaico: Literature-Extracted Genetic Variants

Gene:TYR
Variant:p.G419E
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TYR

NM_000372.5:p.G419E

Associated Papers

Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism.

Grønskov K et al.

Investigative Ophthalmology & Visual Science, 2009

Congenital cataract and macular hypoplasia in humans associated with a de novo mutation in CRYAA and compound heterozygous mutations in P.

Graw J et al.

Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2006

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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."