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| Mendeliome v2.0 | NAA80 | Gene symbol changed from NAT6 to NAA80 during gene set migration (ENSG00000243477 -> ENSG00000243477) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1831 | NAT6 |
Zornitza Stark gene: NAT6 was added gene: NAT6 was added to Mendeliome. Sources: Literature new gene name tags were added to gene: NAT6. Mode of inheritance for gene: NAT6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAT6 were set to 34805998 Phenotypes for gene: NAT6 were set to Auroneurodental syndrome, MIM# 620830 Review for gene: NAT6 was set to RED Added comment: Case report of two brothers with homozygous missense variant and deafness, periodic hypotonia and dental anomalies. HGNC approved name is NAA80. Sources: Literature |
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