Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation.
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DNA methylation profiling to assess pathogenicity of BRCA1 unclassified variants in breast cancer.Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity.Clinical Variant Classification: A Comparison of Public Databases and a Commercial Testing Laboratory.Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics.
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Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation.
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article scientifique
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articolo scientifico
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bilimsel makale
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scientific article published on 28 January 2014
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vetenskaplig artikel
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Multifactorial likelihood asse ...... s confirms that BRCA1:c.122A>G
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Multifactorial likelihood asse ...... Arg) is a pathogenic mutation.
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type
label
Multifactorial likelihood asse ...... s confirms that BRCA1:c.122A>G
@nl
Multifactorial likelihood asse ...... Arg) is a pathogenic mutation.
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prefLabel
Multifactorial likelihood asse ...... s confirms that BRCA1:c.122A>G
@nl
Multifactorial likelihood asse ...... Arg) is a pathogenic mutation.
@en
P2093
P2860
P50
P1433
P1476
Multifactorial likelihood asse ...... Arg) is a pathogenic mutation.
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P2093
Belinda Dopita
David E Goldgar
Jennifer Leary
Kathy Tucker
Linda Warwick
Phillip J Whiley
P2860
P304
P356
10.1371/JOURNAL.PONE.0086836
P407
P577
2014-01-28T00:00:00Z