Associated Papers
A calcium-sensing receptor allelic series and underdiagnosis of genetically driven hypocalcemia.
Chang JB et al.
American Journal of Human Genetics, 2025
Autosomal dominant hypocalcemia with a novel CASR mutation: a case study and literature review.
Wu Y et al.
The Journal of International Medical Research, 2022
35818129 (PubMed )
Supplement: sj-pdf-1-imr-10.1177_03000605221110489.pdf
Germline Mutations Related to Primary Hyperparathyroidism Identified by Next-Generation Sequencing.
Park HS et al.
Frontiers in Endocrinology, 2022
Identification of p.Arg205Cys in CASR in an autosomal dominant hypocalcaemia type 1 pedigree: A case report.
Ji Y et al.
Medicine, 2021
Identification of the genetic basis of sporadic polydactyly in China by targeted sequencing.
Zu B et al.
Computational and Structural Biotechnology Journal, 2021
34194672 (PubMed )
Supplement: mmc1.xlsx › S3
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM23_ESM.xlsx › Supplementary_Data_20
Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved?
Ben-Shachar S et al.
Clinical Genetics, 2009
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