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| Mendeliome v0.5051 | ITSN2 | Zornitza Stark Marked gene: ITSN2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5051 | ITSN2 | Zornitza Stark Gene: itsn2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5051 | ITSN2 | Zornitza Stark Classified gene: ITSN2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5051 | ITSN2 | Zornitza Stark Gene: itsn2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5050 | ITSN2 |
Elena Savva gene: ITSN2 was added gene: ITSN2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: ITSN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITSN2 were set to PMID: 29773874 Phenotypes for gene: ITSN2 were set to Nephrotic syndrome Review for gene: ITSN2 was set to GREEN Added comment: PMID: 29773874: 2 families (3 patients) with homozygous missense or chet missense/PTC + null mice recapitulating the human phenotype. Functional analysis of all variants shows an inability for Cdc42 activation as shown by wildtype overexpression Sources: Literature |
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