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| Likely inborn error of metabolism - targeted testing not possible v2.74 | CHKB | Eleanor Williams Source: Expert Review Red was removed from gene: CHKB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.47 | CHKB |
Ivone Leong Source NHS GMS was added to CHKB. Source London North GLH was added to CHKB. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | CHKB | Ellen McDonagh Added phenotypes Muscular dystrophy, congenital, megaconial type, 602541 for gene: CHKB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | CHKB |
Ellen McDonagh gene: CHKB was added gene: CHKB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHKB were set to 27604308 Phenotypes for gene: CHKB were set to Choline kinase deficiency (Disorders of complex lipid synthesis); Muscular dystrophy, congenital, megaconial type, 602541 |
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