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MEFV mutations identified in the trios.

NIAID Data Ecosystem2026-03-06 收录

家族性地中海热

基因突变诊断

数据链接：

https://figshare.com/articles/dataset/_MEFV_mutations_identified_in_the_trios_/540327 数据链接链接失效反馈

官方服务：

资源简介：

1Infevers Database: http://fmf.igh.cnrs.fr/ISSAID/infevers/; a diagnosis of FMF requires compound heterozygotes. 2NCBI SNP database: www.ncbi.nlm.nih.gov/projects/SNP/

应用场景：

创建时间：

2009-12-30

纤毛病

基因突变诊断

The IFT140 gene is one of many genes involved in the synthesis of proteins needed for cilium function. Ciliopathies are a group of disorders associated with the dysfunction of ciliary structure

DataCite Commons2025-05-15 更新290

肾凝溶胶蛋白淀粉样变性是蛋白尿的罕见病因：病例报告和文献综述

肾凝溶胶蛋白淀粉样变性

基因突变诊断

我们报告了一种伴有肾脏受累的 AGel 淀粉样变性的新突变。基因检测显示 GSN 基因存在杂合错义突变（NM_198252.3;约487G>A;p.Asp163Asn）。该病例凸显了肾活检、质谱分析和基因检测在确定明确诊断中的重要性。它扩展了已知的 GSN 基因突变谱，并进一步支持 AGel 淀粉样变性表型的异质性。

Figshare2025-10-19 更新70

StoneRounds Case: SR382

遗传性视网膜疾病

基因突变诊断

StoneRounds Case SR382 was diagnosed with AR Stargardt Disease likely caused by mutations in the gene: ABCA4.

DataCite Commons2025-01-13 更新50

Table1_Case Report: A Novel De Novo Missense Mutation of the GRIA2 Gene in a Chinese Case of Neurodevelopmental Disorder With Language Impairment.DOCX

神经发育障碍遗传学

基因突变诊断

Introduction: Neurodevelopmental disorders with language impairment and behavioral abnormalities (NEDLIB) are a disease caused by heterozygous variants in the glutamate ionotropic receptor AMPA type s

NIAID Data Ecosystem70

StoneRounds Case: SR58

遗传性视网膜疾病

基因突变诊断

StoneRounds Case SR58 was diagnosed with AD Retinitis Pigmentosa likely caused by mutations in the gene: RHO.

DataCite Commons2022-11-15 更新50