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| Genomic screening in children: BabyScreen+ v0.59 | SMARCAL1 |
Lilian Rudd gene: SMARCAL1 was added gene: SMARCAL1 was added to Genomic screening in children: BabyScreen+. Sources: Expert list Mode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMARCAL1 were set to PMID: 20301550 Phenotypes for gene: SMARCAL1 were set to Schimke immunoosseous dysplasia MIM#242900 Review for gene: SMARCAL1 was set to GREEN Added comment: Established gene-disease association. Childhood onset, multi-system disorder Treatment: haematopoietic stem cells transplantation, renal transplant described. Sources: Expert list |
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