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| Arthrogryposis v0.670 | PSAT1 | Zornitza Stark Marked gene: PSAT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.670 | PSAT1 | Zornitza Stark Gene: psat1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.670 | PSAT1 | Zornitza Stark Classified gene: PSAT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.670 | PSAT1 | Zornitza Stark Gene: psat1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.669 | PSAT1 |
Zornitza Stark gene: PSAT1 was added gene: PSAT1 was added to Arthrogryposis. Sources: Literature Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSAT1 were set to 38278647 Phenotypes for gene: PSAT1 were set to Neu-Laxova syndrome 2, MIM# 616038 Review for gene: PSAT1 was set to GREEN Added comment: Contractures are part of the phenotype at the severe end of the spectrum for this enzyme deficiency. Sources: Literature |
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