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| Mendeliome v0.557 | GUF1 | Zornitza Stark Marked gene: GUF1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.557 | GUF1 | Zornitza Stark Gene: guf1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.557 | GUF1 |
Zornitza Stark gene: GUF1 was added gene: GUF1 was added to Mendeliome_VCGS. Sources: Expert list Mode of inheritance for gene: GUF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GUF1 were set to 26486472 Phenotypes for gene: GUF1 were set to Epileptic encephalopathy, early infantile, 40, MIM# 617065 Review for gene: GUF1 was set to RED Added comment: Single family reported with homozygous missense in three sibs. Sources: Expert list |
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