Reply to: 'Predicted loss-of-function variants before Met584 in ARID1B in population cohorts likely reflect reduced penetrance and should be reported diagnostically'.
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| Title: | Reply to: 'Predicted loss-of-function variants before Met584 in ARID1B in population cohorts likely reflect reduced penetrance and should be reported diagnostically'. |
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| Authors: | Wright CF; Department of Clinical and Biomedical Sciences, University of Exeter Medical School, Garden Suite, St Luke's Campus, Magdalen Road, Exeter, EX1 2LU, UK. caroline.wright@exeter.ac.uk., Beaumont RN; Department of Clinical and Biomedical Sciences, University of Exeter Medical School, Garden Suite, St Luke's Campus, Magdalen Road, Exeter, EX1 2LU, UK. |
| Source: | Genome medicine [Genome Med] 2025 Oct 07; Vol. 17 (1), pp. 114. Date of Electronic Publication: 2025 Oct 07. |
| Publication Type: | Letter |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE; In Process |
| Database: | MEDLINE Ultimate |
| ISSN: | 1756-994X |
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| DOI: | 10.1186/s13073-025-01544-3 |