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A Novel Homozygous Splice Site Variant in ARL2BP Causes a Syndromic Autosomal Recessive Rod-Cone Dystrophy with Situs Inversus, Asthenozoospermia, Unilateral Renal Agenesis and Microcysts

BMC MEDICAL GENOMICS(2024)

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关键词
ARL2BP,Syndromic rod-cone dystrophy,Renal agenesis,Cryptorchidism
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