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MutationTaster

MutationTaster is a free web-based application to evaluate DNA sequence variants for their disease-causing potential. The software performs a battery… 
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Naive Bayes classifierPerlSNP annotation

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Identification of a novel MYO 6 mutation associated with autosomal dominant non-syndromic hearing loss in a Chinese family by whole-exome sequencing
Autosomal dominant non-syndromic hearing loss (ADNSHL) is characterized by postlingual progressive onset. Due to its high genetic… 
2018
2018
Analysis of mutations in CDC27, CTBP2, HYDIN and KMT5A genes in carotid paragangliomas
Carotid paragangliomas (CPGLs) are rare neuroendocrine tumors that arise from paraganglionic tissue of the carotid body… 
2014
2014
Novel PITX 2 c loss-of-function mutations associated with complex congenital heart disease
Congenital heart disease (CHD) is the most common form of birth defect in humans and is the leading non-infectious cause of… 
2013
2013
A novel PITX 2 c loss ‐ of ‐ function mutation underlies lone atrial fibrillation
Atrial fibrillation (AF) is the most common form of sustained cardiac arrhythmia responsible for substantial morbidity and… 
2013
2013
MutationTaster - ein web-basiertes Computerprogramm zur Bewertung des Krankheitspotentials von DNA-Mutationen (MutationTaster - a web-based computer program to evaluate the disease potential of DNA…
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