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Publications

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Filters: Keyword is Mutation, Missense  [Clear All Filters]
2022
New COL6A6 Variant Causes Autosomal Dominant Retinitis Pigmentosa in a Four-Generation Family., Vaclavik, Veronika, Tiab Leila, Sun Young Joo, Mahajan Vinit B., Moulin Alexandre, Allaman-Pillet Nathalie, Munier Francis L., and Schorderet Daniel F. , Invest Ophthalmol Vis Sci, 2022 Mar 02, Volume 63, Issue 3, p.23, (2022)
2015
Structural modeling of a novel CAPN5 mutation that causes uveitis and neovascular retinal detachment., Bassuk, Alexander G., Yeh Steven, Wu Shu, Martin Daniel F., Tsang Stephen H., Gakhar Lokesh, and Mahajan Vinit B. , PLoS One, 2015, Volume 10, Issue 4, p.e0122352, (2015)