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Your search keyword '"Baralle D"' showing total 7 results

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2. Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1and MSH2missense variants

3. Identification of a mutation that perturbs NF1 gene splicing using genomic DNA samples and a minigene assay. (Letter to JMG)

4. Classification of variants of reduced penetrance in high-penetrance cancer susceptibility genes: Framework for genetics clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK)

5. Léri-Weill syndrome associated with a pseudodicentric X;Y translocation chromosome and skewed X-inactivation: Implications for genetic counselling

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