Activity
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5 actions
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Skeletal Dysplasia_Fetal v0.165 | GNPTAB | Zornitza Stark Marked gene: GNPTAB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal Dysplasia_Fetal v0.165 | GNPTAB | Zornitza Stark Gene: gnptab has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal Dysplasia_Fetal v0.165 | GNPTAB | Zornitza Stark Classified gene: GNPTAB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal Dysplasia_Fetal v0.165 | GNPTAB | Zornitza Stark Gene: gnptab has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal Dysplasia_Fetal v0.163 | GNPTAB |
Krithika Murali gene: GNPTAB was added gene: GNPTAB was added to Skeletal Dysplasia_Fetal. Sources: Literature Mode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNPTAB were set to 20301728 Phenotypes for gene: GNPTAB were set to Mucolipidosis II alpha/beta - MIM#252500 Review for gene: GNPTAB was set to GREEN Added comment: ML II is evident at birth - small for gestational age, deformed long bones and other skeletal anomalies. Sources: Literature |