Associated Papers
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
34503567 (PubMed )
Supplement: 13073_2021_964_MOESM6_ESM.xlsx › Sheet1
Exome-based investigation of the genetic basis of human pigmentary glaucoma.
van der Heide C et al.
Bmc Genomics, 2021
Emerging roles of melanocortin receptor accessory proteins (MRAP and MRAP2) in physiology and pathophysiology.
Berruien NNA et al.
Gene, 2020
Neonatal presentation of familial glucocorticoid deficiency resulting from a novel splice mutation in the melanocortin 2 receptor accessory protein.
Jain V et al.
European Journal of Endocrinology, 2011
Heterogeneity in the molecular basis of ACTH resistance syndrome.
Collares CV et al.
European Journal of Endocrinology, 2008
Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2.
Metherell LA et al.
Nature Genetics, 2005
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