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| Anophthalmia_Microphthalmia_Coloboma v1.40 | NHEJ1 | Zornitza Stark Marked gene: NHEJ1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia_Microphthalmia_Coloboma v1.40 | NHEJ1 | Zornitza Stark Gene: nhej1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia_Microphthalmia_Coloboma v1.40 | NHEJ1 |
Zornitza Stark gene: NHEJ1 was added gene: NHEJ1 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature deep intronic tags were added to gene: NHEJ1. Mode of inheritance for gene: NHEJ1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NHEJ1 were set to 37580330 Phenotypes for gene: NHEJ1 were set to Microphthalmia/coloboma, MIM# 13 620968 Review for gene: NHEJ1 was set to RED Added comment: Seven individuals from 2 consanguineous families identified with a deep intronic homozygous variant affecting the IHH enhancer within NHEJ1. Sources: Literature |
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