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Isolated sulfite oxidase deficiency: a founder mutation.
Cold Spring Harb Mol Case Stud. 2020 Dec 17;6(6):a005900. doi: 10.1101/mcs.a005900. Print 2020 Dec.
Cold Spring Harb Mol Case Stud. 2020.
PMID: 33335014
Free PMC article.
Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR).
Lebo MS, Zakoor KR, Chun K, Speevak MD, Waye JS, McCready E, Parboosingh JS, Lamont RE, Feilotter H, Bosdet I, Tucker T, Young S, Karsan A, Charames GS, Agatep R, Spriggs EL, Chisholm C, Vasli N, Daoud H, Jarinova O, Tomaszewski R, Hume S, Taylor S, Akbari MR, Lerner-Ellis J; Canadian Open Genetics Repository Working Group.
Lebo MS, et al. Among authors: agatep r.
Genet Med. 2018 Mar;20(3):294-302. doi: 10.1038/gim.2017.80. Epub 2017 Jul 20.
Genet Med. 2018.
PMID: 28726806
Free article.
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Prenatal hydrops fetalis associated with infantile free sialic acid storage disease due to a novel homozygous deletion in the SLC17A5 gene.
Hasnain A, Burnett S, Agatep R, Spriggs E, Chodirker B, Mhanni AAA.
Hasnain A, et al. Among authors: agatep r.
Cold Spring Harb Mol Case Stud. 2021 Oct 19;7(5):a006106. doi: 10.1101/mcs.a006106. Print 2021 Oct.
Cold Spring Harb Mol Case Stud. 2021.
PMID: 34667062
Free PMC article.
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