Varaico: Literature-Extracted Genetic Variants

Gene:NDP
Variant:p.L106P
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NDP

NM_000266.4:p.L106P

Associated Papers

EARLY-ONSET OF FAMILIAL EXUDATIVE VITREORETINOPATHY: Clinical Characteristics, Management, and Outcomes.

Kitic N et al.

Retina (philadelphia, Pa.), 2024

Pharmacological chaperones for the misfolded melanocortin-4 receptor associated with human obesity.

Huang H et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2017

Defect in MAPK signaling as a cause for monogenic obesity caused by inactivating mutations in the melanocortin-4 receptor gene.

He S et al.

International Journal of Biological Sciences, 2014

Pharmacological characterization of 40 human melanocortin-4 receptor polymorphisms with the endogenous proopiomelanocortin-derived agonists and the agouti-related protein (AGRP) antagonist.

Xiang Z et al.

Biochemistry, 2006

Gene polymorphisms and their effects in the melanocortin system.

Carroll L et al.

Peptides, 2005

Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms.

Yeo GS et al.

Human Molecular Genetics, 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."