Associated Papers
A calcium-sensing receptor allelic series and underdiagnosis of genetically driven hypocalcemia.
Chang JB et al.
American Journal of Human Genetics, 2025
40664210 (PubMed )
Supplement: mmc2.xlsx › Table_S7_UKB_variants
CFTR function is impaired in a subset of patients with pancreatitis carrying rare CFTR variants.
Angyal D et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2024
Impact of Gene Modifiers on Cystic Fibrosis Phenotypic Profiles: A Systematic Review.
Ward A et al.
Human Mutation, 2024
Trans-heterozygosity for mutations enhances the risk of recurrent/chronic pancreatitis in patients with Cystic Fibrosis.
Sofia VM et al.
Molecular Medicine (cambridge, Mass.), 2018
Potentially functional SNPs (pfSNPs) as novel genomic predictors of 5-FU response in metastatic colorectal cancer patients.
Wang J et al.
Plos One, 2014
25372392 (PubMed )
Supplement: pone.0111694.s006.pdf
Identification of rare and frequent variants of the CASR gene by high-resolution melting.
Nissen PH et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2012
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