Varaico: Literature-Extracted Genetic Variants

Gene:CDHR1
Variant:p.S52F
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CDHR1

NM_033100.4:p.S52F

Associated Papers

Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy.

Bertrand RE et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33077892 (PubMed )
Supplement: NIHMS1645491-supplement-Supplemental_Tables.xlsx › Table_S4

Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.

Diñeiro M et al.

Acta Ophthalmologica, 2020

32483926 (PubMed )
Supplement: AOS-98-e1034-s012.xlsx › Table_S12
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