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| Likely inborn error of metabolism - targeted testing not possible v2.23 | XYLT1 | Arina Puzriakova Phenotypes for gene: XYLT1 were changed from Desbuquois dysplasia 2 to Desbuquois dysplasia 2, 615777 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | XYLT1 | Ellen McDonagh Added phenotypes Desbuquois dysplasia 2 for gene: XYLT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | XYLT1 |
Ellen McDonagh gene: XYLT1 was added gene: XYLT1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: XYLT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XYLT1 were set to 23982343; 24581741 Phenotypes for gene: XYLT1 were set to Desbuquois dysplasia 2 |
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