Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only.
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The NF1 somatic mutational landscape in sporadic human cancers.Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.Increased risk of breast cancer in neurofibromatosis type 1: current insightsNevoid basal cell carcinoma syndrome caused by splicing mutations in the PTCH1 gene.Therapy-associated myelodysplastic syndrome with monosomy 7 arising in a Muir-Torre Syndrome patient carrying SETBP1 mutation.Randomised controlled trial of simvastatin treatment for autism in young children with neurofibromatosis type 1 (SANTA).Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1.Genetic Testing in Endocrinology
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Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 13 April 2016
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Comprehensive RNA Analysis of ...... With Pigmentary Features Only.
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Comprehensive RNA Analysis of ...... With Pigmentary Features Only.
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Comprehensive RNA Analysis of ...... With Pigmentary Features Only.
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Comprehensive RNA Analysis of ...... With Pigmentary Features Only.
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Comprehensive RNA Analysis of ...... With Pigmentary Features Only.
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Comprehensive RNA Analysis of ...... With Pigmentary Features Only.
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Comprehensive RNA Analysis of ...... With Pigmentary Features Only.
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A J Wallace
E Burkitt-Wright
M Penman-Splitt
Northern UK NF1 Research Network
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10.1016/J.EBIOM.2016.04.005
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2016-04-13T00:00:00Z