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Identification of Two Novel Mutations in the ATM Gene from Patients with Ataxia-Telangiectasia by Whole Exome Sequencing.
Curr Genomics. 2019 Nov;20(7):531-534. doi: 10.2174/1389202920666191107153734.
Curr Genomics. 2019.
PMID: 32655291
Free PMC article.
Association of a novel homozygous mutation in the HMGCS2 gene with an HMGCSD in an Iranian patient.
Heidari M, Soleyman-Nejad M, Isazadeh A, Shapouri J, Taskhiri MH, Ahangari R, Mohamadi AR, Ebrahimi M, Karimi H, Bolhassani M, Karimi Z, Heidari M.
Heidari M, et al. Among authors: mohamadi ar.
Mol Genet Genomic Med. 2020 Nov;8(11):e1507. doi: 10.1002/mgg3.1507. Epub 2020 Sep 23.
Mol Genet Genomic Med. 2020.
PMID: 32969201
Free PMC article.
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