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| Mendeliome v0.3791 | PTGS1 | Zornitza Stark Marked gene: PTGS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3791 | PTGS1 | Zornitza Stark Gene: ptgs1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3791 | PTGS1 | Zornitza Stark Classified gene: PTGS1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3791 | PTGS1 | Zornitza Stark Gene: ptgs1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3790 | PTGS1 |
Zornitza Stark gene: PTGS1 was added gene: PTGS1 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: PTGS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTGS1 were set to 32299908; 11442478; 27629384; 8562397 Phenotypes for gene: PTGS1 were set to Platelet dysfunction; bleeding Review for gene: PTGS1 was set to AMBER Added comment: Single molecularly characterised family reported. However, note at least two previous older reports where deficiency was identified at protein rather than gene level. Sources: Expert list |
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