Clinical features of individuals with <i>NEK8</i> mutations.

NIAID Data Ecosystem2026-03-09 收录

NEK8基因突变临床表型分析

罕见病分子遗传学

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https://figshare.com/articles/dataset/Clinical_features_of_individuals_with_i_NEK8_i_mutations_/4014357 数据链接链接失效反馈

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资源简介：

Clinical features of individuals with NEK8 mutations.

创建时间：

2016-10-26

Data_Sheet_1_A Novel Homozygous Mutation of the AIRE Gene in an APECED Patient From Pakistan: Case Report and Review of the Literature.PDF

罕见病分子遗传学

AIRE基因突变分析

Autoimmune-poly-endocrinopathy-candidiasis–ectodermal-dystrophy syndrome (APECED) is a rare monogenic recessive disorder caused by mutations in the autoimmune regulator (AIRE) gene. Criteria for the d

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Supplementary Material for: A Novel Compound Heterozygous CYP27A1 Variant in Cerebrotendinous Xanthomatosis: A Case Report from a Non-Consanguineous Family

罕见病分子遗传学

脑腱黄瘤病（CTX）遗传筛查

Introduction: Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive lipid storage disorder characterized by the accumulation of cholesterol and cholestanol in various tissues. It is caus

NIAID Data Ecosystem30

Additional file 1 of Clinical and genetic characterization of 47 Chinese pediatric patients with Pitt–Hopkins syndrome: a retrospective study

罕见病分子遗传学

儿童神经发育障碍

Additional file 1: Table S1. A table detailing the clinical signs and genomic defects.

NIAID Data Ecosystem20

Polygenic risk score in Africa populations: progress and challenges

非洲人群遗传风险预测

罕见病分子遗传学

Polygenic Risk Score (PRS) analysis is a method that predicts the genetic risk of an individual towards targeted traits. Even when there are no significant markers, it gives evidence of a genetic effe

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RAI1 variants in SMS patients without 17p11.2 deletion identified in the current study.

罕见病分子遗传学

基因变异分析

NA: DNA was not available.aThis case was classified as ‘de novo’ due to pathogenicity of the nonsense mutation, note that parental DNA could not be analyzed.bOnly sequence around c.707A>T available, p

Figshare2015-12-02 更新30

Clinical features of individuals with <i>NEK8</i> mutations.

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