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| Cardiomyopathy_Paediatric v0.0 | HGSNAT |
Zornitza Stark gene: HGSNAT was added gene: HGSNAT was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet Mode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HGSNAT were set to 27604308; 21048366 Phenotypes for gene: HGSNAT were set to MPS IIIC, Sanfilippo C disease (Mucopolysaccharidoses); Mucopolysaccharidosis Type III; Mucopolysaccharidosis Type IIIC; Mucopolysaccharidosis, Type III; Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930; Retinitis Pigmentosa 73 |
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