Associated Papers
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM13_ESM.xlsx › Sheet1
Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34.
Shaheen R et al.
Human Mutation, 2019
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