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Data supporting: 'A tyrosinse-to-asparagine mutation in TRAPPC6A leads to build-up of the protein and results in a novel syndrome with intellectual disability, speech delay and dysmorphic features'.

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Figshare2018-01-19 更新2026-04-29 收录
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TRAPPC6A is associated with a novel phenotype and joins a growing list of proteins belonging to the TRAPP complex implicated in clinical syndromes with neurodevelopmental features.

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2018-01-19
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