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Biallelic variants in NSUN6 cause an autosomal recessive neurodevelopmental disorder.
Genet Med. 2023 Sep;25(9):100900. doi: 10.1016/j.gim.2023.100900. Epub 2023 May 21.
Genet Med. 2023.
PMID: 37226891
Free article.
A Biallelic Truncating Variant in the TPR Domain of GEMIN5 Associated with Intellectual Disability and Cerebral Atrophy.
Ibrahim N, Naz S, Mattioli F, Guex N, Sharif S, Iqbal A, Ansar M, Reymond A.
Ibrahim N, et al.
Genes (Basel). 2023 Mar 13;14(3):707. doi: 10.3390/genes14030707.
Genes (Basel). 2023.
PMID: 36980979
Free PMC article.
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