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Description
Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs

Because these reactions were reported voluntarily from a population of uncertain size, it is not always possible to estimate their frequency, reliability, or to establish a causal relationship to drug exposure

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C., Teixeira, F

Using a CRISPR KO screen targeting 64 KGDDs, we identified and validated TMLHE as the aKGDD driving these effects
