Publications:

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Translational potential of base-editing tools for gene therapy of monogenic diseases.

Frontiers In Bioengineering And Biotechnology

Reshetnikov, Vasiliy V VV; Chirinskaite, Angelina V AV; Sopova, Julia V JV; Ivanov, Roman A RA; Leonova, Elena I EI

Publication Date: 2022

Variant appearance in text: HEXA: W392X

PubMed Link: 36032737

Variant Present in the following documents:

• Main text
• fbioe-10-942440.pdf

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Inborn errors of metabolism: Lessons from iPSC models.

Reviews In Endocrine & Metabolic Disorders

Escribá, Rubén R; Ferrer-Lorente, Raquel R; Raya, Ángel Á

Publication Date: 2021-12

Variant appearance in text: HEXA: W392X

PubMed Link: 34241766

Variant Present in the following documents:

• 11154_2021_9671_MOESM1_ESM.pdf

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CNS-Targeting Therapies for Lysosomal Storage Diseases: Current Advances and Challenges.

Frontiers In Molecular Biosciences

Edelmann, Mariola J MJ; Maegawa, Gustavo H B GHB

Publication Date: 2020

Variant appearance in text: HEXA: W392X

PubMed Link: 33304924

Variant Present in the following documents:

• Main text
• fmolb-07-559804.pdf

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Neural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs disease.

Orphanet Journal Of Rare Diseases

Vu, Mylinh M; Li, Rong R; Baskfield, Amanda A; Lu, Billy B; Farkhondeh, Atena A; Gorshkov, Kirill K; Motabar, Omid O; Beers, Jeanette J; Chen, Guokai G; Zou, Jizhong J; Espejo-Mojica, Angela J AJ; Rodríguez-López, Alexander A; Alméciga-Díaz, Carlos J CJ; Barrera, Luis A LA; Jiang, Xuntian X; Ory, Daniel S DS; Marugan, Juan J JJ; Zheng, Wei W

Publication Date: 2018-09-17

Variant appearance in text: HEXA: Trp392Ter

PubMed Link: 30220252

Variant Present in the following documents:

• Main text
• 13023_2018_Article_886.pdf

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Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.

Bmc Medical Genomics

Gal, Moran M; Khermesh, Khen K; Barak, Michal M; Lin, Min M; Lahat, Hadas H; Reznik Wolf, Haike H; Lin, Michael M; Pras, Elon E; Levanon, Erez Y EY

Publication Date: 2016-05-13

Variant appearance in text: HEXA: W392X

PubMed Link: 27175728

Variant Present in the following documents:

• 12920_2016_184_MOESM1_ESM.xls, sheet 1

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Nonsense-mediated decay of human HEXA mRNA.

Molecular And Cellular Biology

Rajavel, K S KS; Neufeld, E F EF

Publication Date: 2001-08

Variant appearance in text: HEXA: W392X

PubMed Link: 11463833

Variant Present in the following documents:

• Main text

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