The gene sequencing data of a patient with 46,XY DSD

NIAID Data Ecosystem2026-03-14 收录

发育异常基因诊断

基因测序分析

数据链接：

https://www.ncbi.nlm.nih.gov/bioproject/PRJNA908831 数据链接链接失效反馈

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资源简介：

To obtain the molecular diagnosis of the patient with 46,XY DSD.

创建时间：

2022-12-05

Novel alterations of CC2D1A as a candidate gene in a Turkish sample of patients with autism spectrum disorder

自闭症遗传学

基因测序分析

Autism spectrum disorder (ASD) is a neurodevelopmental disorder with large genetic background, but identification of pathogenic variants has proceeded slowly because hundreds of loci are involved in t

Taylor & Francis Group2022-10-21 更新80

PCR product raw sequences.

PCR验证

基因测序分析

PCR products were purified as described and first pass sequencing was performed using the BSF8/20 and BSR1541/20 primers. (TXT)

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whole exome sequencing of one patient with epilepsy and development delay

癫痫基因组学

发育异常基因诊断

clinical testing for patients with epilepsy and development delay. A trio-whole exome sequencing revealed a novel homozygous frameshift variant in CNTN2 (c.2873_c.2874delCT, p.Thr958Thrfs) . SNP mutat

NIAID Data Ecosystem40

AR gene mutation and seminoma

肿瘤遗传学

发育异常基因诊断

A infertile women with primary amenorrhea had bilateral inguinal mass. The surgical pathology suggested seminoma. Further full exon sequencing results suggested that the missense mutation in AR gene w

NIAID Data Ecosystem70

Patient Characteristics and Sequencing Results.

慢性阻塞性肺病微生物组

基因测序分析

*All COPD patients were non-smokers for at least 6 months prior to study entry. #Fewer sequences were obtained from COPD samples than from Control samples (p = 0.0326); this association was driven by

NIAID Data Ecosystem50

The gene sequencing data of a patient with 46,XY DSD

资源简介：

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