相关数据集
Data_Sheet_1_Genetic and clinical analysis of TP73 gene in amyotrophic lateral sclerosis patients from Chinese mainland.pdf
IntroductionTP73 was recently identified as a novel causative gene for amyotrophic lateral sclerosis (ALS). We aimed to determine the contribution of variations in TP73 in the Chinese ALS population a
NIAID Data Ecosystem20
Data_Sheet_2_Case Report: Two New Cases of Chromosome 12q14 Deletions and Review of the Literature.docx
Interstitial deletions on the long arm of chromosome 12 (12q deletions) are rare, and are associated with intellectual disability, developmental delay, failure to thrive and congenital anomalies. The
NIAID Data Ecosystem10
Table_1_Novel germline variants in KMT2C in Chinese patients with Kleefstra syndrome-2.xlsx
Kleefstra syndrome (KLEFS) refers to a rare inherited neurodevelopmental disorder characterized by intellectual disability (ID), language and motor delays, behavioral abnormalities, abnormal facial ap
NIAID Data Ecosystem30
Family history of our cohort.
Pathogenic FLCN variant and clinical phenotype for each individual included in the study. FH: Family history, CRC: Colorectal cancer. (XLSX)
Figshare2022-02-17 更新10
