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| Skeletal Dysplasia_Fetal v0.157 | FGFR1 | Zornitza Stark Marked gene: FGFR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.157 | FGFR1 | Zornitza Stark Gene: fgfr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.157 | FGFR1 | Zornitza Stark Publications for gene: FGFR1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.156 | FGFR1 | Zornitza Stark Classified gene: FGFR1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.156 | FGFR1 | Zornitza Stark Gene: fgfr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.154 | FGFR1 | Krithika Murali Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.154 | FGFR1 | Krithika Murali edited their review of gene: FGFR1: Added comment: OGD is a rare, FGFR1-associated allelic disorder - primordial dwarfism and rhizomelia are notable features. Recurrent variants reported e.g. Cys381Arg.; Changed publications: PMID: 16470795, PMID: 15625620, PMID: 29147600, PMID: 20339250 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.154 | FGFR1 |
Krithika Murali changed review comment from: OGD is a rare, FGFR1-associated allelic disorder - primordial dwarfism and rhizomelia are notable features. Recurrent variants reported e.g. Cys381Arg. Sources: Literature; to: OGD is a rare, FGFR1-associated allelic disorder - primordial dwarfism and rhizomelia are notable features. Recurrent variants reported e.g. Cys381Arg. Sources: Literature |
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| Skeletal Dysplasia_Fetal v0.154 | FGFR1 |
Krithika Murali gene: FGFR1 was added gene: FGFR1 was added to Skeletal Dysplasia_Fetal. Sources: Literature Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FGFR1 were set to Osteoglophonic dysplasia-MIM#166250 Review for gene: FGFR1 was set to GREEN Added comment: OGD is a rare, FGFR1-associated allelic disorder - primordial dwarfism and rhizomelia are notable features. Recurrent variants reported e.g. Cys381Arg. Sources: Literature |
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