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A homozygous variant in CHMP3 is associated with complex hereditary spastic paraplegia.
J Med Genet. 2023 Mar;60(3):233-240. doi: 10.1136/jmedgenet-2022-108508. Epub 2022 Jun 16.
J Med Genet. 2023.
PMID: 35710109
Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies.
Beryozkin A, Shevah E, Kimchi A, Mizrahi-Meissonnier L, Khateb S, Ratnapriya R, Lazar CH, Blumenfeld A, Ben-Yosef T, Hemo Y, Pe'er J, Averbuch E, Sagi M, Boleda A, Gieser L, Zlotogorski A, Falik-Zaccai T, Alimi-Kasem O, Jacobson SG, Chowers I, Swaroop A, Banin E, Sharon D.
Beryozkin A, et al. Among authors: alimi kasem o.
Sci Rep. 2015 Aug 26;5:13187. doi: 10.1038/srep13187.
Sci Rep. 2015.
PMID: 26306921
Free PMC article.
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