Varaico: Literature-Extracted Genetic Variants

Gene:PCSK1
Variant:p.A344T
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PCSK1

NM_000439.5:p.A344T

Associated Papers

Obesity Characteristics Are Poor Predictors of Genetic Mutations Associated with Obesity.

Al-Humadi AW et al.

Journal of Clinical Medicine, 2023

37835041 (PubMed )
Supplement: jcm-12-06396-s001.zip › jcm-2584407-supplementary.pdf

Functional characterization of all missense variants in LEPR, PCSK1, and POMC genes arising from single-nucleotide variants.

Shah BP et al.

Expert Review of Endocrinology & Metabolism, 2023

Heterozygous rare genetic variants in non-syndromic early-onset obesity.

Serra-Juhé C et al.

International Journal of Obesity (2005), 2020

30926952 (PubMed )
Supplement: 41366_2019_357_MOESM5_ESM.xlsx › Suppl_1_EOO_RSVs

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
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