DNAH9 recessive mutations by Whole Exome Sequencing

NIAID Data Ecosystem2026-03-12 收录

基因突变关联研究

发育遗传学

数据链接：

https://www.ncbi.nlm.nih.gov/sra/SRP338501 数据链接链接失效反馈

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资源简介：

To study the correlation between DNAH9 mutations and defects in left-right patterning and heart development

创建时间：

2021-09-25

Additional file 12 of aristaless1 has a dual role in appendage formation and wing color specification during butterfly development

发育遗传学

基因功能验证

Additional file 12: Source Data File 1. Zip file with the raw unedited blot images. Sections of these 3 images were used to create Supplemental Fig. 2.

DataCite Commons2023-05-05 更新100

Table_1_The Cis-Regulatory Code for Kelch-like 21/30 Specific Expression in Ciona robusta Sensory Organs.XLS

发育遗传学

神经细胞分化

The tunicate Ciona robusta is an emerging model system to study the evolution of the nervous system. Due to their small embryos and compact genomes, tunicates, like Ciona robusta, have great potential

NIAID Data Ecosystem30

Sequence chromatogram of the c.3744_3752del mutation on the SCN1A gene in the proband and her family members

家系遗传数据分析

基因突变关联研究

In family 2, the proband carried one variant in the SCN1A gene (c.3744_3752del) associated with twitching, whereas it was not detected in parents (Figure 1B).

Figshare2023-09-09 更新10

Loss of Ahnak is associated with Congenital Anomalies of the Kidney and Urinary Tract

发育遗传学

泌尿系统先天异常

Various renal abnormalities including hydronephrosis, polycystic and hydroureter had been reported and these symptoms are present in DiGeorge syndrome, polycystic kidney disease, renal dysplasia and a

NIAID Data Ecosystem50

DNA Repair and Transcriptional Effects of Mutations in TFIIH in Drosophila Development

DNA损伤修复机制

发育遗传学

Mutations in XPB and XPD TFIIH helicases have been related with three hereditary human disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. The dual role of TFIIH in DNA repai

PubMed Central10

DNAH9 recessive mutations by Whole Exome Sequencing

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