眼界 发表于 2025-3-23 11:01:24

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SLUMP 发表于 2025-3-23 14:59:44

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Paraplegia 发表于 2025-3-23 18:51:38

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MIR 发表于 2025-3-24 02:02:42

,, encodes a centrosomal protein involved in ciliary assembly and ciliary trafficking. Mutations are responsible for autosomal recessive Leber’s congenital amaurosis (LCA), Joubert syndrome, and Bardet-Biedl Syndrome .

泥沼 发表于 2025-3-24 03:50:21

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Adenocarcinoma 发表于 2025-3-24 08:49:55

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Frequency 发表于 2025-3-24 12:17:12

,, encodes battenin, a protein involved in lysosomal function and neuronal transport. Mutations in this gene are associated with a syndromic retinal degeneration, Batten disease, or juvenile neuronal ceroid lipofuscinosis (JNCL), as well as non-syndromic retinal degeneration .

paltry 发表于 2025-3-24 17:38:46

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reperfusion 发表于 2025-3-24 22:33:19

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过度 发表于 2025-3-25 01:48:10

,,ethanolamine and all-trans-retinaldehyde as part of the visual cycle. Recessively inherited mutations can cause a variety of .-related retinopathies that includes Stargardt disease, fundus flavimaculatus, retinitis pigmentosa (rod-cone dystrophy)-like phenotype, cone dystrophy, and cone-rod dystroph
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查看完整版本: Titlebook: Retinal Dystrophy Gene Atlas; Sarwar Zahid,Kari Branham,Thiran Jayasundera Book 2018 Springer International Publishing AG, part of Springe