The molecular and clinical details of variants identified in EB patients.

Figshare2025-09-16 更新2026-04-28 收录

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The molecular and clinical details of variants identified in EB patients.

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2025-09-16

Quantitative effect of each additional HCV genetic variation that is unique to the marked or poor day 28 response classes on eventual treatment outcome a.

病毒治疗应答预测

基因变异与疾病关联

aComparing SVR (sustained viral response) vs. NR (non-response). bFor example, a relative risk of 1.18 for E1 in genotype 1a indicates that for one additional marked/poor response-specific unique vari

NIAID Data Ecosystem100

Genomic Hypomethylation in the Human Germline Associates with Selective Structural Mutability in the Human Genome

生殖系统表观遗传学

基因变异与疾病关联

The hotspots of structural polymorphisms and structural mutability in the human genome remain to be explained mechanistically. We examine associations of structural mutability with germline DNA methyl

Figshare2016-01-19 更新20

Association of Specific ACE2 and TMPRSS2 Variants with Circulatory Cytokines of COVID-19 Emirati Patients

COVID-19易感性

基因变异与疾病关联

The COVID-19 pandemic represented one of the most significant challenges to researchers and healthcare providers. Several factors determine the disease severity, whereas none alone can explain the tre

Figshare2024-05-21 更新10

Additional file 1 of Protective PLCG2 variants associate with a delayed onset of Alzheimer’s disease among heterozygous APOE ε4 carriers

阿尔茨海默病遗传学

基因变异与疾病关联

Supplementary Material 1. FinnGen Banner Sep2025.

NIAID Data Ecosystem30

Supplementary Material for: Arg339Gln is a Recurrent Variant in Rare Combined Oxidative Phosphorylation Deficiency 4: A New Patient with Biallelic TUFM Gene Variant

线粒体疾病遗传

基因变异与疾病关联

Introduction: Combined oxidative phosphorylation deficiency 4 (COXPD4, OMIM#610678) is a very rare mitochondrial disorder caused by biallelic variants in TUFM gene. The condition is characterized by m

DataCite Commons2025-11-14 更新10

The molecular and clinical details of variants identified in EB patients.

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