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| Mendeliome v1.624 | GET4 | Elena Savva Marked gene: GET4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.624 | GET4 | Elena Savva Gene: get4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.624 | GET4 |
Elena Savva gene: GET4 was added gene: GET4 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: GET4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GET4 were set to 32395830 Phenotypes for gene: GET4 were set to ?Congenital disorder of glycosylation,, type IIy MIM#620200 Review for gene: GET4 was set to RED Added comment: PMID: 32395830 - chet patient (missense x2), functionally shown to result in downregulation of three TRC proteins in patient cell lines. - patient phenotype included ID, DD, seizures, dysmorphism and delayed bone age. - functional studies on missense themselves not performed Sources: Literature |
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