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WES microcephaly

NIAID Data Ecosystem2026-03-13 收录

小头畸形遗传学

外显子变异分析

数据链接：

https://www.ncbi.nlm.nih.gov/sra/SRP347574 数据链接链接失效反馈

官方服务：

资源简介：

An affected girl with microcephaly. WES identified a homozygous variant in the ZNF335 gene

应用场景：

创建时间：

2021-11-25

乳腺癌耐药性

外显子变异分析

Point mutations from exome-sequencing. Point mutations, sequencing reads and mutation frequency in tamoxifen-resistant cells (Resistant Reference Reads, Resistant Variant Reads, Resistant Variant Freq

NIAID Data Ecosystem70

Additional file 4: of Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome

Nance-Horan综合征致病突变

外显子变异分析

Variants in gene NHS accounted for pathogenic clinical conditions. Pathogenic mutation revealed in this study and those reported in ClinVar and Cat Map databases were reviewed in the table. (XLSX 14 k

NIAID Data Ecosystem50

Editing sites in exons.

RNA编辑

外显子变异分析

Editing sites in exons.

Figshare2016-02-24 更新40

Additional file 6 of Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report

Usher综合征基因突变

外显子变异分析

Additional file 6.

Figshare2020-12-11 更新70

Homo sapiens Exome. Homo sapiens