Varaico: Literature-Extracted Genetic Variants

Gene:GPR50
Variant:p.Y182C
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GPR50

NM_004224.3:p.Y182C

Associated Papers

Sorsby Fundus Dystrophy: Novel Mutations, Novel Phenotypic Characteristics, and Treatment Outcomes.

Gliem M et al.

Investigative Ophthalmology & Visual Science, 2015

Muscle protein alterations in LGMD2I patients with different mutations in the Fukutin-related protein gene.

Yamamoto LU et al.

The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society, 2008

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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."