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Detection of a Novel Mutation in the CACNA1A Gene

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A Short Tutorial in Analyzing NGS Data of Cancer Genomes for Somatic Mutation Calling

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A Case of Vitamin D-Dependent Rickets Type 1A With a Novel Mutation in the Uzbek Population

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Linkage Analysis Identifies a Novel Locus for Restless Legs Syndrome on Chromosome 2q in a South Tyrolean Population Isolate

American Journal of Human Genetics
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A Novel Mutation Thr162Arg of the Melanocortin 4 Receptor Gene in a Spanish Children and Adolescent Population

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Mutation and Selection in a Large Population

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A Case Report of a Symptomatic Osteopoikilosis Patient Caused by Novel Mutation in LEMD3

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P1.09-13 Detection of Actionable Mutations in Plasma cfDNA Samples From NSCLC Patients Using a Novel Amplicon-Based Firefly NGS Assay

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Novel Mutations and Mutation Combinations of Ryanodine Receptor in a Chlorantraniliprole Resistant Population of Plutella Xylostella (L.)

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