Homo sapiens Targeted Locus (Loci). Homo sapiens
收藏NIAID Data Ecosystem2026-04-18 收录
官方服务：
资源简介：
Identification of the deafness mutation
应用场景：
创建时间：
2014-05-22
相关数据集
Hereditary Hearing loss Homepage
Hereditary Hearing Loss Homepage（耳聋与听力损失基因数据库）是一个专注于遗传性听力障碍的基因数据库。它旨在为研究人员和临床医生提供最新的单基因非综合征性听力障碍相关基因定位与鉴定信息。该数据库收录了经至少一篇文献支持的基因位点，并提供了基因-疾病关联的证据等级分类。
知名数据库4140
Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach
The unparalleled heterogeneity in genetic causes of hearing loss along with remarkable differences in prevalence of causative variants among ethnic groups makes single gene tests technically inefficie
NIAID Data Ecosystem70
Calibration and initial validation of a low-cost computer-based screening audiometer coupled to consumer insert phone-earmuff combination for boothless audiometry
To undertake calibration and preliminary validation of a custom-designed computer-based screening audiometer connected to consumer insert phone-earmuff combination for adult pure tone audiometry. Part
DataCite Commons2022-10-03 更新60
Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach
In order to provide a faster, more comprehensive and cost effective assay, we constructed a DNA fluidic array, CapitalBioMiamiOtoArray, for the detection of sequence variants in five genes that are co
NIAID Data Ecosystem80
Variants of OTOF and PJVK Genes in Chinese Patients with Auditory Neuropathy Spectrum Disorder
BackgroundMutations in OTOF and PJVK genes cause DFNB9 and DFNB59 types of hearing loss, respectively. The patients carrying pathogenic mutations in either of these genes may show the typical phenotyp
NIAID Data Ecosystem60
