Activity
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| Likely inborn error of metabolism v9.18 | PTPMT1 | Arina Puzriakova Tag Q2_26_NHS_review was removed from gene: PTPMT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v9.18 | PTPMT1 | Arina Puzriakova Entity copied from Mitochondrial disorders v10.11 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v9.18 | PTPMT1 |
Arina Puzriakova gene: PTPMT1 was added gene: PTPMT1 was added to Likely inborn error of metabolism. Sources: Expert Review Amber,Literature Q2_26_promote_green, Q2_26_expert_review, Q2_26_NHS_review tags were added to gene: PTPMT1. Mode of inheritance for gene: PTPMT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTPMT1 were set to 39279645 Phenotypes for gene: PTPMT1 were set to Neurodevelopmental disorder with ataxia and brain abnormalities, OMIM:621199 |
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