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Webster, Andrew R
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Webster, Andrew R
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Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa
by
Iglesias-Romero, Ana Belén
Published 2024
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Structural variants create new topological-associated domains and ectopic retinal enhancer-gene contact in dominant retinitis pigmentosa
by
de Bruijn, Suzanne E.
Published 2020
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Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression
by
Malka, Samantha
Published 2024
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Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy
by
Kaminska, Karolina
Published 2025
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