Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia.
Barraza-García J et al.
Clinical Genetics, 2017
Further evidence of POP1 mutations as the cause of anauxetic dysplasia.
Elalaoui SC et al.
American Journal of Medical Genetics. Part A, 2016
'POP'! The mystery of a skeletal dysplasia vanishes thanks to exome sequencing.
Sutton LM
Clinical Genetics, 2011
Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia.
Glazov EA et al.
Plos Genetics, 2011
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