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A Progeroid Syndrome with Severe Osteogenesis Imperfecta segregates with an Intronic TAPT1 homozygous Variant that Creates a knockout allele [NET-seq]
PubMed Full text in PMC Similar studies
A Progeroid Syndrome with Severe Osteogenesis Imperfecta segregates with an Intronic TAPT1 homozygous Variant that Creates a knockout allele
Illumina NovaSeq 6000 (Homo sapiens)
SI-NET-seq primary fibroblast WT2 R2
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