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资源简介：
NF1 patients with intracranial aneurysms.
应用场景：
创建时间：
2017-06-03
相关数据集
POG_patient_20073 - samples
Genome and transcriptome sequence data from a neurofibromatosis type 1 (NF1) patient, generated as part of the BC Cancer Agency's Pediatric Personalized Onco-Genomics studyEGA dataset EGAD00001015266
NIAID Data Ecosystem40
Table1_Case Report: A Synonymous Mutation in NF1 Located at the Non-canonical Splicing Site Leading to Exon 45 Skipping.DOCX
Synonymous mutations are generally considered non-pathogenic because it did not alter the amino acids of the encoded protein. Publications of the associations between synonymous mutations and abnormal
NIAID Data Ecosystem30
Data_Sheet_1_Assessment of Mosaicism and Detection of Cryptic Alleles in CRISPR/Cas9-Engineered Neurofibromatosis Type 1 and TP53 Mutant Porcine Models Reveals Overlooked Challenges in Precision Modeling of Human Diseases.XLSX
Genome editing in pigs has been made efficient, practical, and economically viable by the CRISPR/Cas9 platform, representing a promising new era in translational modeling of human disease for research
NIAID Data Ecosystem60
Supplementary Material for: COEXISTENCE OF CONGENITAL ANIRIDIA AND PTOSIS IN A PATIENT WITH NEUROFIBROMATOSIS TYPE I: A CASE REPORT.
Introduction Neurofibromatosis type 1 (NF1) is a genetic disorder caused by mutations in the NF1 gene on chromosome 17q11.2. The main ocular manifestations include Lisch nodules, optic pathway gliomas
DataCite Commons2025-05-27 更新40
