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_S8_AOU_variants
A novel loss-of-function mutation of PBK associated with human kidney stone disease.
Nettuwakul C et al.
Scientific Reports, 2020
32581305 (PubMed )
Supplement: 41598_2020_66936_MOESM1_ESM.pdf
Frequent somatic mutations in MAP3K5 and MAP3K9 in metastatic melanoma identified by exome sequencing.
Stark MS et al.
Nature Genetics, 2011
22197930 (PubMed )
Supplement: NIHMS340429-supplement-2.xlsx › Sheet1
Select a paper to view details