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Glioma gene mutation
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创建时间：
2022-09-10
相关数据集
Select SNVs from patients 1 and 2.
NF2 loss-of-function mutations were common to both patients, as well as mutations in CNTNAP3B (shown in bold). For a complete list of SNVs see S1 File and S2 File. Select SNVs from patients 1 and 2.
NIAID Data Ecosystem80
Whole-exome and targeted amplicon sequencing of fibroadenomas.. Whole-exome and targeted amplicon sequencing of fibroadenomas.
Fibroadenomas are the most common breast tumors in women below 30. Exome sequencing of eight fibroadenomas with matching whole-blood revealed recurrent somatic mutations solely in MED12. Targeted prev
NIAID Data Ecosystem40
Genetic and physical map of the von Recklinghausen neurofibromatosis (NF1) region on chromosome 17.
The von Recklinghausen neurofibromatosis 1 (NF1) locus has been previously assigned to the proximal long arm of chromosome 17, and two NF1 patients have been identified who have constitutional balance
PubMed Central20
Table_1_Novel PANK2 Mutations in Patients With Pantothenate Kinase-Associated Neurodegeneration and the Genotype–Phenotype Correlation.DOCX
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare genetic disorder caused by mutations in the mitochondrial pantothenate kinase 2 (PANK2) gene and displays an inherited autosomal reces
NIAID Data Ecosystem70
Crystal structure of the Neurofibromin Sec14-PH module containing the patient derived mutation I1584V
Crystal structure of the Neurofibromin Sec14-PH module containing the patient derived mutation I1584V Descriptor: (1S)-2-{[(2-AMINOETHOXY)(HYDROXY)PHOSPHORYL]OXY}-1-[(PALMITOYLOXY)METHYL]ETHYL STEARAT
Protein Data Bank Japan2024-11-06 更新30
