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Diagnostic mRNA splicing assay for variants in BRCA1 and BRCA2 identified two novel pathogenic splicing aberrations.
Hered Cancer Clin Pract. 2019 May 22;17:14. doi: 10.1186/s13053-019-0113-9. eCollection 2019.
Hered Cancer Clin Pract. 2019.
PMID: 31143303
Free PMC article.
A 39 kb structural variant causing Lynch Syndrome detected by optical genome mapping and nanopore sequencing.
Bjørnstad PM, Aaløkken R, Åsheim J, Sundaram AYM, Felde CN, Østby GH, Dalland M, Sjursen W, Carrizosa C, Vigeland MD, Sorte HS, Sheng Y, Ariansen SL, Grindedal EM, Gilfillan GD.
Bjørnstad PM, et al. Among authors: felde cn.
Eur J Hum Genet. 2024 May;32(5):513-520. doi: 10.1038/s41431-023-01494-7. Epub 2023 Nov 29.
Eur J Hum Genet. 2024.
PMID: 38030917
Free PMC article.
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Publisher Correction: A 39 kb structural variant causing Lynch syndrome detected by optical genome mapping and nanopore sequencing.
Bjørnstad PM, Aaløkken R, Åsheim J, Sundaram AYM, Felde CN, Østby GH, Dalland M, Sjursen W, Carrizosa C, Vigeland MD, Sorte HS, Sheng Y, Ariansen SL, Grindedal EM, Gilfillan GD.
Bjørnstad PM, et al. Among authors: felde cn.
Eur J Hum Genet. 2024 May;32(5):601-602. doi: 10.1038/s41431-023-01519-1.
Eur J Hum Genet. 2024.
PMID: 38172175
Free PMC article.
No abstract available.
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