官方服务：
资源简介：
To detect MYO7A mutations in patients with Usher syndrome.
应用场景：
创建时间：
2014-03-12
相关数据集
Additional file 2 of Population-based BRCA germline mutation screening in the Han Chinese identifies individuals at risk of BRCA mutation-related cancer: experience from a clinical diagnostic center from greater Shanghai area
Supplementary Material 2
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Additional file 1 of Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients
Additional file 1: Table S1. File format: Excel spreadsheet. Gene list screened in this study.
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Mutation screening of the LRIT3, CABP4 , and GPR179 genes in Chinese patients with Schubert-Bornschein congenital stationary night blindness
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Supplementary Table S8 for: Improvement of multiplex semi-nested PCR system for screening rare mutations by High-throughput sequencing
Table S8. The number of confirmed genuine mutations identified from 20 times of down-sampling analysis of the raw sequencing reads
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SNP analysis in ABCD1 gene in X-linked adrenoleukodystrophy cases and healthy controls.
*Novel SNPs.
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