Associated Papers
Mistargeting and ER retention of CLN7 patient-associated nonsense and sequence deletion mutations as a novel cause for CLN7 disease.
Valigi F et al.
Human Molecular Genetics, 2025
40485231 (PubMed )
Supplement: supplementary_material_hmg-2025-oa-00132_r1_valigi_et_al_ddaf089.pdf
MULTIMODAL IMAGING OF A NOVEL MFSD8/CLN7 MUTATION ASSOCIATED WITH NONSYNDROMIC SYMMETRIC ADULT-ONSET MACULAR DYSTROPHY.
Gelormini F et al.
Retinal Cases & Brief Reports, 2025
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