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Targeted resequencing of chromosome 22 in schwannomatosis individuals
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创建时间：
2023-10-13
相关数据集
Frequencies of various manifestations of NF1 in clinician-reported studies compared with NF registry.
Frequencies of various manifestations of NF1 in clinician-reported studies compared with NF registry.
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Targeted resequencing of chromosome 22 in schwannomatosis individuals
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Genome-wide transcriptional profiling of Nf1-haploinsufficiency in mouse. Mus musculus
Neurofibromatosis type 1 (NF1) is a common monogenic tumor-predisposition disorder that arises secondary to mutations in the tumor suppressor gene NF1. Haploinsufficiency of NF1 fosters a permissive t
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Targeted sequencing of candidate regions on chromosome 22q predisposing to multiple schwannomas
Constitutional LZTR1 or SMARCB1 pathogenic variants have been found in ~86% of familial and ~40% of sporadic schwannomatosis cases. Hence, we performed massively parallel sequencing of the entire LZTR
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High Resolution Mapping of DNA Copy Alterations in Human Chromosome 22 Using High Density Tiling Oligonucleotide Arrays. Homo sapiens
Deletions and amplifications of the human genomic sequence (Copy Number Polymorphisms, or 'CNPs') are the cause for numerous diseases and a potential cause of phenotypic variation in the normal popula
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