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Disease-causing Mutation

A gene alteration that causes or predisposes an individual to a specific disease.
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2017
Review
2017
Next-generation sequencing has revolutionized clinical diagnostic testing. Yet, for a substantial proportion of patients… Expand
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Highly Cited
2011
Highly Cited
2011
Human induced pluripotent stem cells (iPSCs) bearing monogenic mutations have great potential for modeling disease phenotypes… Expand
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Highly Cited
2010
Highly Cited
2010
The congenital dyserythropoietic anemias (CDAs) are inherited red blood cell disorders whose hallmarks are ineffective… Expand
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2010
2010
The autosomal dominant peripheral sensory neuropathy HSAN1 results from mutations in the LCB1 subunit of serine… Expand
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Highly Cited
2000
Highly Cited
2000
Charcot-Marie-Tooth (CMT) disease is the most common inherited motor and sensory neuropathy. The axonal form of the disease is… Expand
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Highly Cited
1999
Highly Cited
1999
Targeted mutagenesis was used to produce two mutations in the murine hemochromatosis gene (Hfe) locus. The first mutation deletes… Expand
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Highly Cited
1998
Highly Cited
1998
BACKGROUND A substantial proportion of cases of glaucoma have a genetic basis. Mutations causing glaucoma have been identified in… Expand
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Highly Cited
1997
Highly Cited
1997
BACKGROUND & AIMS We recently identified a single R117H mutation in the cationic trypsinogen gene in several kindreds with an… Expand
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Highly Cited
1992
Highly Cited
1992
BACKGROUND Familial hypertrophic cardiomyopathy is characterized by a variable degree of myocardial hypertrophy and a wide range… Expand
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Highly Cited
1990
Highly Cited
1990
BACKGROUND AND METHODS Both the clinical manifestations of cystic fibrosis and the genotypes of patients are heterogeneous, but… Expand
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