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February 28, 2024Genetics in MedicineOpen Access

Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration

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Authors

JHJi Hoon HanUniversity of BaselKRKim RodenburgRadboud University NijmegenTHTamar HaymanHebrew University of Jerusalem

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Cite This Study

Han et al. (2024) studied this question.

synapsesocial.com/papers/6a957ef56a9a0c380125ffb2https://doi.org/10.1016/j.gim.2024.101106
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Also Consider

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  1. 1The Ubiquitin Conjugating Enzyme, UbcM2, Engages in Novel Interactions with Components of Cullin-3 Based E3 Ligases2009 · 24 citations
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  3. 3ABCA4midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease2017 · 175 citations