Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome.
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| Title: | Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome. |
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| Authors: | Scott A; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA.; Division of Genetic Medicine, Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, MI, 48109, USA., Hernandez F; Ambry Genetics, Aliso Viejo, CA, 92656, USA., Chamberlin A; Ambry Genetics, Aliso Viejo, CA, 92656, USA., Smith C; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA.; Department of Computational Medicine and Bioinformatics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA., Karam R; Ambry Genetics, Aliso Viejo, CA, 92656, USA.; Department of Computational Medicine and Bioinformatics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA., Kitzman JO; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA. kitzmanj@umich.edu.; Department of Computational Medicine and Bioinformatics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA. kitzmanj@umich.edu. |
| Source: | Genome biology [Genome Biol] 2022 Dec 22; Vol. 23 (1), pp. 266. Date of Electronic Publication: 2022 Dec 22. |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural |
| Journal Info: | Publisher: BioMed Central Ltd Country of Publication: England NLM ID: 100960660 Publication Model: Electronic Cited Medium: Internet ISSN: 1474-760X (Electronic) Linking ISSN: 14747596 NLM ISO Abbreviation: Genome Biol Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1474-760X |
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| DOI: | 10.1186/s13059-022-02839-z |
