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March 6, 2019Journal of Medical GeneticsOpen Access

NAA10 polyadenylation signal variants cause syndromic microphthalmia

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Authors

JJJennifer J. JohnstonNational Institutes of HealthKWKathleen A. WilliamsonInstitute of Genetics and CancerCCChristopher M. ChouUniversity of Michigan

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Johnston et al. (2019) studied this question.

synapsesocial.com/papers/6a1c8c912cc291e7bf2ff13chttps://doi.org/10.1136/jmedgenet-2018-105836
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Also Consider

Synapse has enriched 4 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site.1989 · 220 citations
  2. 2STAR: ultrafast universal RNA-seq aligner2012 · 58,410 citations
  3. 3Point mutations in AAUAAA and the poly (A) addition site: effects on the accuracy and efficiency of cleavage and polyadenylationin vitro1990 · 506 citations
  4. 4Analysis of protein-coding genetic variation in 60,706 humans2016 · 10,421 citations