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Skeletal dysplasia v0.24 | SBDS | Tiong Tan Added phenotypes Shwachman-Diamond syndrome 260400; Shwachman-Diamond syndrome 260400 for gene: SBDS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v0.24 | SBDS | Tiong Tan Added phenotypes Shwachman-Diamond syndrome 260400; Shwachman-Diamond syndrome 260400 for gene: SBDS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v0.23 | SBDS |
Tiong Tan Source Victorian Clinical Genetics Services was added to SBDS. Added phenotypes Shwachman-Diamond syndrome 260400; Shwachman-Diamond syndrome 260400 for gene: SBDS |
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Skeletal dysplasia v0.0 | SBDS |
Zornitza Stark gene: SBDS was added gene: SBDS was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Expert Review Mode of inheritance for gene: SBDS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SBDS were set to Shwachman-Diamond syndrome 260400; Shwachman-Diamond syndrome 260400 |