Varaico: Literature-Extracted Genetic Variants

Gene:PCSK1
Variant:p.R740Q
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PCSK1

NM_000439.5:p.R740Q

Associated Papers

Identification and functional validation of rare coding variants in genes linked to monogenic obesity.

Köroğlu Ç et al.

Obesity (silver Spring, Md.), 2024

Melanocortin 4 Receptor Pathway Dysfunction in Obesity: Patient Stratification Aimed at MC4R Agonist Treatment.

Ayers KL et al.

The Journal of Clinical Endocrinology and Metabolism, 2018

29726959 (PubMed )
Supplement: jc.2018-00258.sd1.pdf

Functional consequences of a novel variant of PCSK1.

Pickett LA et al.

Plos One, 2013

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