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| Mendeliome v0.7599 | ZPR1 | Zornitza Stark Tag founder tag was added to gene: ZPR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7599 | ZPR1 | Zornitza Stark Marked gene: ZPR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7599 | ZPR1 | Zornitza Stark Gene: zpr1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7599 | ZPR1 |
Zornitza Stark gene: ZPR1 was added gene: ZPR1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: ZPR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZPR1 were set to 29851065 Phenotypes for gene: ZPR1 were set to Growth restriction, hypoplastic kidneys, alpecia, and distinctive facies 619321 Review for gene: ZPR1 was set to RED Added comment: 3 families reported with growth restriction, hypoplastic kidneys, alopecia, and distinctive facies (GKAF). All were Hispanic families from the middle Rio Grande Valley. Homozygous missense identified in one family, p. Ile196Thr. Others unavailable for testing, founder effect postulated. Sources: Literature |
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