Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.V103I
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PTCH1

NM_000264.5:p.V103I

Associated Papers

Prevalence and functionality of paucimorphic and private MC4R mutations in a large, unselected European British population, scanned by meltMADGE.

Alharbi KK et al.

Human Mutation, 2007

Identification and functional characterization of three novel human melanocortin-4 receptor gene variants in an obese Chinese population.

Rong R et al.

Clinical Endocrinology, 2006

Binge eating as a major phenotype of melanocortin 4 receptor gene mutations.

Branson R et al.

The New England Journal of Medicine, 2003

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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."