首页/数据集/Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation

Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation

ChEBI2015-11-20 更新2026-07-12 收录

遗传疾病机制

先天性肢体畸形

数据链接：

https://www.ebi.ac.uk/biostudies/ArrayExpress/studies/E-GEOD-75190 数据链接链接失效反馈

官方服务：

资源简介：

Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation

应用场景：

创建时间：

2015-11-20

剪接变异预测

遗传疾病机制

Prediction scores of canonical (c.439) and cryptic splice site (c.439-17) by five prediction algorithms due to the variant c.439-17G>A in CDHR1 gene.

NIAID Data Ecosystem80

Supplementary Material for: Congenital Malalignment of the Great Toenails with Secondary Retronychia: A Tale of Twin Toenails

先天性肢体畸形

甲沟炎治疗

Introduction: Congenital malalignment of the great toenail (CMGT) is characterized by deviation of the nail plate due to rotation of the nail matrix. CMGT may be complicated by secondary retronychia.

DataCite Commons2025-03-28 更新60

Epidemiology of congenital upper limb anomalies in Korea: A nationwide population-based study

流行病学

先天性肢体畸形

Epidemiology of congenital upper limb anomalies in Korea: A nationwide population-based study

Global Health Data Exchange ()50

Additional file 5 of Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function

遗传疾病机制

基因功能分析

Additional file 5: Table S6. The in-frame exon localization and role within the ABCA4 protein.

Figshare2023-08-16 更新60

Loss of Maenli lncRNA expression causes engrailed-1 dependent congenital limb malformations [Derived Virtual 4C]

先天性肢体畸形

非编码RNA功能

Long non-coding RNAs (lncRNAs) can be important components in gene regulatory networks1, but we are only beginning to understand the nature and extent of their involvement in human Mendelian disease.

NIAID Data Ecosystem60

Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation

资源简介：

相关数据集