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Missense mutation   New Search


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Gene  21 times
Zygosity  11 times
Phenotype  9 times
Syndrome  8 times
Mutation  8 times
Exon  8 times
Protein  7 times
DNA  7 times
Sanger sequencing  5 times
Proband  4 times
Polymerase chain reaction  4 times
Magnetic resonance imaging  4 times
Genetic disorder  4 times
Exome sequencing  3 times
Exome  3 times
DNA sequencing  3 times
Congenital disorder  3 times
Cell surface receptor  3 times
Autosome  3 times
Transcription factor  2 times
Proteinuria  2 times
Point mutation  2 times
Nucleotide  2 times
Metabolism  2 times
Italy  2 times
Iran  2 times
Immune system  2 times
Hypotonia  2 times
Hormone  2 times
Homology modeling  2 times
Hepatosplenomegaly  2 times
Enzyme  2 times
Encephalopathy  2 times
Dystonia  2 times
Chromosome  2 times
China  2 times
Allele  2 times
Zinc  1 time
Zebra  1 time
White matter  1 time
White blood cell  1 time
WT1  1 time
Voltage-dependent calcium channel  1 time
Ventricular hypertrophy  1 time
Ukraine  1 time
Ubiquitin ligase  1 time
Ubiquitin  1 time
Triglyceride  1 time
Transferase  1 time
T cell  1 time
Streptococcus  1 time
Stomach cancer  1 time
Skin  1 time
Sensorineural hearing loss  1 time
Scoliosis  1 time
Sclera  1 time
Saudi Arabia  1 time
Sardinia  1 time
Ribosomal RNA  1 time
Renal function  1 time
Red blood cell  1 time
Prenatal diagnosis  1 time
Post-translational modification  1 time
Portal vein  1 time
Polymerase  1 time
Pneumothorax  1 time
Pituitary gland  1 time
Phosphorylation  1 time
Pheochromocytoma  1 time
Ovarian cancer  1 time
Obesity  1 time
Neuroimaging  1 time
Neuroendocrine cell  1 time
Nerve tract  1 time
Neomycin  1 time
Myeloid tissue  1 time
Mouse  1 time
Methionine  1 time
Messenger RNA  1 time
Macular degeneration  1 time
Lysosomal storage disease  1 time
Liver biopsy  1 time
Lipid  1 time
Kidney disease  1 time
Insulin  1 time
Inflammation  1 time
Immunodeficiency  1 time
Illumina dye sequencing  1 time
Hypoxia-inducible factors  1 time
Hypoplasia  1 time
Hypopituitarism  1 time
Hypertension  1 time
Hydrogen bond  1 time
Hepatocyte  1 time
Hemodialysis  1 time
Hellenic Broadcasting Corporation  1 time
Glucose tolerance test  1 time
Glomerulus (kidney)  1 time
Glomerulosclerosis  1 time
Genetic code  1 time
G protein–coupled receptor  1 time
Frontotemporal dementia  1 time
Frameshift mutation  1 time
Fibrosis  1 time
Fever  1 time
Fasting  1 time
Erythropoietin  1 time
Epileptic seizure  1 time
Enzyme replacement therapy  1 time
Electronic Entertainment Expo  1 time
Electron microscope  1 time
Dysplasia  1 time
Dyskinesia  1 time
Diabetes mellitus type 2  1 time
Dendritic cell  1 time
Cytotoxic T cell  1 time
Cyclin  1 time
Crystal violet  1 time
Creatinine  1 time
Corpus callosum  1 time
Contracture  1 time
Confidence interval  1 time
Chronic kidney disease  1 time
Chi-squared test  1 time
Chemotaxis  1 time
Chain reaction  1 time
Cataract  1 time
CT scan  1 time
Breast cancer  1 time
Body mass index  1 time
Blood plasma  1 time
Biopsy  1 time
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Biofilm  1 time
Bile duct  1 time
Base pair  1 time
BRCA2  1 time
BRCA1  1 time
Autophagy  1 time
Autism spectrum  1 time
Attention deficit hyperactivity disorder  1 time
Ataxia  1 time
Asteroid family  1 time
Apoptosis  1 time
Apolipoprotein  1 time
Anterior pituitary  1 time
Amyotrophic lateral sclerosis  1 time
Alkaline phosphatase  1 time
Adenosine  1 time
Acute myeloid leukemia  1 time
AMP-activated protein kinase  1 time
1000 Genomes Project  1 time

Publications tagged with this subject: 30

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