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Your search keyword '"Bruty, J."' showing total 15 results

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15 results on '"Bruty, J."'

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1. 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)

2. Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants

4. Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants

5. 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)

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

7. Identification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders

8. Identification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders

9. New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies

10. Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996-2020: development of a national resource of patient-level genomics laboratory records.

11. Identification of an Activating PDGFRA Deletion in a Novel Sinonasal Soft Tissue Neoplasm.

12. Clear cell variant of atypical fibroxanthoma and pleomorphic dermal sarcoma: Molecular characterization and review of the literature.

13. New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.

14. Adult female with symptomatic AVPR2-related nephrogenic syndrome of inappropriate antidiuresis (NSIAD).

15. MaConDa: a publicly accessible mass spectrometry contaminants database.

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