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Achondroplasia
Achondroplasia
An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, ...<br/>
MeSH
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Tubulin
Tubulin
A microtubule subunit protein found in large quantities in mammalian brain. It has also been isolated from SPERM FLAGELLUM; CILIA; and other sources. Structurally, the protein...<br/>Year introduced: 1980(1975)
MeSH
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Ataxin-1
Ataxin-1
A chromatin-binding factor that represses Notch signaling and associates with RNA. Expansion of the polyglutamine tract by expanded CAG repeats in the ATXN1 gene coding region...<br/>Year introduced: 2016 (1995)
MeSH
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Ataxin-7
Ataxin-7
A component of the STAGA transcription coactivator-HAT complex that functions in Cone Rod Homeobox Protein (CRX)-dependent gene activation. It also stabilizes MICROTUBULES. CA...<br/>Year introduced: 2016
MeSH
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LOC731484 [Homo sapiens]
LOC731484 [Homo sapiens]
Gene ID:731484
Gene
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