Novel Splice-Altering Variants in the CHM and CACNA1F Genes Causative of X-Linked Choroideremia and Cone Dystrophy.
Ridgeway AR, Shortall C, Finnegan LK, Long R, Matthews E, Dockery A, Kopčić E, Whelan L, Kirk C, Silvestri G, Turner J, Keegan DJ, Millington-Ward S, Chadderton N, Duignan E, Kenna PF, Farrar GJ.
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Genes (Basel). 2024.
PMID: 39858572
Free article.