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资源简介：
Exome sequencing for a Chinese girl with KBG syndrome
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创建时间：
2021-02-19
相关数据集
Genotypes of SD patients analyzed in this study.
ND: not detectable; NA: not available. Novel mutations are indicated in bold, *RefSeq cDNA:NM_000521. For cDNA numbering +1 corresponds to the A of the first ATG translation initiation codon. RefSeq p
NIAID Data Ecosystem50
Next Generation Mendelian Genetics: Neonatal Diabetes
The NHGRI Next Generation Mendelian Genetics project uses exome resequencing to identify variants in unsolved Mendelian diseases. Neonatal diabetes mellitus (ND) is a rare form of monogenic diabetes
NIAID Data Ecosystem20
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 Ecosystem10
Additional file 1 of Mutation screening of the USH2A gene reveals two novel pathogenic variants in Chinese patients causing simplex usher syndrome 2
Additional file 1: Table S1. Primer information for the USH2A gene exons 2 to 72 sequencing. (XLS 31 kb)
Figshare2020-02-24 更新40
Additional file 3: of Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies
Table S3. Variants of unknown significance (class 3) and variants in TRAF3 identified in 17 patients suffering from primary immunodeficiencies. (XLSX 11 kb)
Figshare2019-06-17 更新10
