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Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center.
Orphanet J Rare Dis. 2022 May 3;17(1):179. doi: 10.1186/s13023-022-02288-8.
Orphanet J Rare Dis. 2022.
PMID: 35505348
Free PMC article.
Underdiagnoses resulting from variant misinterpretation: Time for systematic reanalysis of whole exome data?
Al-Murshedi F, Meftah D, Scott P.
Al-Murshedi F, et al.
Eur J Med Genet. 2019 Jan;62(1):39-43. doi: 10.1016/j.ejmg.2018.04.016. Epub 2018 Apr 27.
Eur J Med Genet. 2019.
PMID: 29709712
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