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| Mendeliome v0.8058 | CATIP | Zornitza Stark Marked gene: CATIP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8058 | CATIP | Zornitza Stark Gene: catip has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8058 | CATIP |
Zornitza Stark gene: CATIP was added gene: CATIP was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: CATIP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CATIP were set to 32503832 Phenotypes for gene: CATIP were set to Spermatogenic failure 54, MIM# 619379 Review for gene: CATIP was set to RED Added comment: Homozygous missense variant reported in a single consanguineous family with 4 affecteds. Limited functional data. Sources: Expert list |
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