Research map: Rare Biallelic CTU2 Variants in an Individual With CAKUT : Clinical Characterization and Minigene Splicing Analysis

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  1. Tissue-based map of the human proteome · Mathias Uhlén · 2015 · 16361 citations · Cited by this paper
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  21. Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT · Steve Seltzsam · 2021 · 41 citations · Cited by this paper
  22. Biallelic variants in CTU2 cause DREAM‐PL syndrome and impair thiolation of tRNA wobble U34 · Ranad Shaheen · 2019 · 40 citations · Cited by this paper
  23. The syndrome dysmorphic facies, renal agenesis, ambiguous genitalia, microcephaly, polydactyly and lissencephaly (DREAM‐PL): Report of two additional patients · Ranad Shaheen · 2016 · 29 citations · Cited by this paper
  24. Extensive Phenotypic Variability in Syndrome Dysmorphic Facies, Renal Agenesis, Ambiguous Genitalia, Microcephaly, Polydactyly, and Lissencephaly (DREAM-PL): A Case Report Highlighting Diagnostic and Management Challenges · Amin I Shaaban · 2024 · 2 citations · Cited by this paper

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