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A novel variant in NSUN2 causes intellectual disability in a Chinese family.
BMC Med Genomics. 2024 Apr 20;17(1):95. doi: 10.1186/s12920-024-01883-x.
BMC Med Genomics. 2024.
PMID: 38643142
Free PMC article.
Novel variants in TNRC6B cause global developmental delay with speech and behavioral abnormalities, short stature, low body weight, café-au-lait spots, and metabolic abnormality.
Yang Q, Ou S, Zhou X, Yi S, Lin L, Yi S, Zhang S, Qin Z, Luo J.
Yang Q, et al.
Mol Genet Genomic Med. 2024 Feb;12(2):e2408. doi: 10.1002/mgg3.2408.
Mol Genet Genomic Med. 2024.
PMID: 38404251
Free PMC article.
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