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| Mendeliome v1.3100 | MAP3K6 | Zornitza Stark Marked gene: MAP3K6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3100 | MAP3K6 | Zornitza Stark Gene: map3k6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3100 | MAP3K6 |
Zornitza Stark gene: MAP3K6 was added gene: MAP3K6 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: MAP3K6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAP3K6 were set to 33728376; 40947452 Phenotypes for gene: MAP3K6 were set to Neurovascular disorder, MONDO:0043218, MAP3K6-related Review for gene: MAP3K6 was set to RED Added comment: PMID 33728376: large multiplex family segregating a missense variant, p.Asp108Asn and stroke episodes, cognitive impairment and tremor. Same family reported in PMID 40947452, with additional feature of basal ganglia calcification. Sources: Literature |
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