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A recurrent synonymous L1CAM variant in a fetus with hydrocephalus.
Hum Genome Var. 2024 Jan 23;11(1):4. doi: 10.1038/s41439-024-00263-2.
Hum Genome Var. 2024.
PMID: 38263409
Free PMC article.
Targeted long-read sequencing identified a causal structural variant in X-linked nephrogenic diabetes insipidus.
Strych L, Černá M, Hejnalová M, Zavoral T, Komrsková P, Tejcová J, Bitar I, Sládková E, Sýkora J, Šubrt I.
Strych L, et al. Among authors: tejcova j.
BMC Med Genomics. 2024 Jan 22;17(1):29. doi: 10.1186/s12920-024-01801-1.
BMC Med Genomics. 2024.
PMID: 38254165
Free PMC article.
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