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| Arthrogryposis v0.149 | MYL1 | Zornitza Stark Marked gene: MYL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.149 | MYL1 | Zornitza Stark Gene: myl1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.149 | MYL1 |
Zornitza Stark gene: MYL1 was added gene: MYL1 was added to Arthrogryposis. Sources: Expert list Mode of inheritance for gene: MYL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYL1 were set to 30215711 Phenotypes for gene: MYL1 were set to Myopathy, congenital, with fast-twitch (type II) fiber atrophy, MIM# 618414 Review for gene: MYL1 was set to RED Added comment: Two families and a zebrafish model. Predominant finding is that of hypotonia, mild contractures reported in one. Sources: Expert list |
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