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disease: Chondrodysplasia Blomstrand type

id1433
nameChondrodysplasia Blomstrand type
variant-disease NM_000316.3(PTH1R):c.310C>T (p.Arg104Ter) AND Chondrodysplasia Blomstrand type
PTH1R, 1-BP DEL, 1122G AND Chondrodysplasia Blomstrand type
NM_000316.3(PTH1R):c.395C>T (p.Pro132Leu) AND Chondrodysplasia Blomstrand type
NM_000316.3(PTH1R):c.1148G>A (p.Arg383Gln) AND Chondrodysplasia Blomstrand type
PTH1R, IVSM4, C-T, +27 AND Chondrodysplasia Blomstrand type