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| Renal ciliopathies v0.1 | HYLS1 |
Eleanor Williams gene: HYLS1 was added gene: HYLS1 was added to Renal ciliopathies. Sources: UKGTN,Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,Expert Review Green Mode of inheritance for gene: HYLS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HYLS1 were set to 26830932 - report in two siblings with Joubert syndrome; 19656802 - impairment in ciligenesis; 18648327 - Hydrolethalus syndrome; 15843405 - Hydrolethalus syndrome Phenotypes for gene: HYLS1 were set to Joubert syndrome; Hydrolethalus syndrome, 236680 |
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