Evidence Search

Search across evidence sources using semantic retrieval and quality ranking.

Found 10 results for "mutation" (1.167s)
The Fertility Effects of the C677T Mutation in the Methylenetetrahydrofolate Reductase Gene: A Cross-Site Systematic Review and Meta-Analysis Score: 82.45
pubmed_article meta_analysis Quality: 55 📅 2025 🏷️ vitamin-b12 🔓 Open Access
exact match recent
PMID: 40785353 DOI: 10.1002/ajhb.70119
Nicotine as target-therapy in Sleep-Related Hypermotor Epilepsy due to nAChR genes mutation: case report and systematic review of literature Score: 81.38
pubmed_article systematic_review Quality: 59 📅 2026 🏷️ niacin
exact match recent
PMID: 41192108 DOI: 10.1016/j.sleep.2025.106884
Neonatal diabetes due to potassium channel mutation: Response to sulfonylurea according to the genotype Score: 79.6
pubmed_article systematic_review Quality: 51 📅 2020 🏷️ potassium 📊 37 citations 🔓 Open Access
exact match recent
PMID: 32418263 DOI: 10.1111/pedi.13041
TP53 Mutation Status in Myelodysplastic Neoplasm and Acute Myeloid Leukemia: Impact of Reclassification Based on the 5th WHO and International Consensus Classification Criteria: A Korean Multicenter Study. Score: 65.66
guideline guideline Quality: 69 📅 2025 🏷️ guideline-supplements
exact match recent
PMID: 39497415 DOI: 10.3343/alm.2024.0351
Drug treatment for spinal muscular atrophy types II and III Score: 64.87
pubmed_article meta_analysis Quality: 70 📅 2020 🏷️ creatine 📊 62 citations 🔓 Open Access
recent
PMID: 32006461 DOI: 10.1002/14651858.CD006282.pub5
Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B12 metabolism: A meta-analysis Score: 63.87
pubmed_article meta_analysis Quality: 65 📅 2022 🏷️ vitamin-b12 📊 16 citations 🔓 Open Access
recent
PMID: 35764087 DOI: 10.1016/j.xcrm.2022.100670
[Guidelines on tests of PIK3CA mutation in breast cancer in China (2025 version)]. Score: 63.81
guideline guideline Quality: 65 📅 2025 🏷️ guideline-supplements
exact match recent
PMID: 39863526 DOI: 10.3760/cma.j.cn112151-20241120-00770
[Expert consensus on the diagnosis and treatment of advanced non-small cell lung cancer with EGFR PACC mutations (2025 edition)]. Score: 63.78
guideline guideline Quality: 65 📅 2025 🏷️ guideline-supplements
exact match recent
PMID: 40841332 DOI: 10.3760/cma.j.cn112152-20250529-00247
A unified method for rare variant analysis of gene-environment interactions Score: 62.44
pubmed_article meta_analysis Quality: 55 📅 2020 🏷️ niacin 📊 11 citations 🔓 Open Access
recent
PMID: 31799744 DOI: 10.1002/sim.8446
A TMEM16J variant leads to dysregulated cytosolic calcium which may lead to renal disease Score: 61.53
pubmed_article meta_analysis Quality: 55 📅 2023 🏷️ calcium-kidney 📊 10 citations 🔓 Open Access
recent
PMID: 36520003 DOI: 10.1096/fj.202200968R