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Heterozygous pathogenic variants in POMC are not responsible for monogenic obesity: Implication for MC4R agonist use

Lauriane Le Collen, Brigitte Delemer, Christine Poitou, Martine Vaxillaire, Bénédicte Toussaint, Aurélie Dechaume, Alaa Badreddine, Mathilde Boissel, Mehdi Derhourhi, Karine Clément,

Genetics in Medicine · 2023 · 23 citations · 33 references

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33

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

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Predicting the functional impact of protein mutations: application to cancer genomics

Boris Reva, Yevgeniy Antipin, Chris Sander · Nucleic Acids Research · 2011 · 2.1K citations · Full text

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Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans

Heiko Krude, Heike Biebermann, W. A. P. Luck et al. · Nature Genetics · 1998 · 1.7K citations

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Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral

Sean V. Tavtigian · Journal of Medical Genetics · 2005 · 665 citations · Full text

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Proopiomelanocortin Deficiency Treated with a Melanocortin-4 Receptor Agonist

Peter Kühnen, Karine Clément, Susanna Wiegand et al. · New England Journal of Medicine · 2016 · 470 citations

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