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| Skeletal dysplasia v0.360 | GNPTAB | Lucy Spencer Phenotypes for gene: GNPTAB were changed from Mucolipidosis III alpha/beta 252600; Mucolipidosis II alpha/beta 252500 to GNPTAB-mucolipidosis MONDO:0100122; Mucolipidosis II alpha/beta, MIM# 252500; Mucolipidosis III alpha/beta, MIM# 252600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.0 | GNPTAB |
Zornitza Stark gene: GNPTAB was added gene: GNPTAB was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNPTAB were set to Mucolipidosis III alpha/beta 252600; Mucolipidosis II alpha/beta 252500 |
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