Activity
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4 actions
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| Deafness_IsolatedAndComplex v1.183 | NAT6 |
Zornitza Stark changed review comment from: Case report of two brothers with homozygous missense variant and deafness, periodic hypotonia and dental anomalies. Sources: Literature; to: 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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| Deafness_IsolatedAndComplex v1.183 | NAT6 | Zornitza Stark Marked gene: NAT6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.183 | NAT6 | Zornitza Stark Gene: nat6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.183 | NAT6 |
Zornitza Stark gene: NAT6 was added gene: NAT6 was added to Deafness_IsolatedAndComplex. 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. Sources: Literature |
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