Varaico: Literature-Extracted Genetic Variants

Gene:CDHR1
Variant:p.A456E
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CDHR1

NM_033100.4:p.A456E

Associated Papers

Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.

Esteve-Garcia A et al.

Eye (london, England), 2025

Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.

Tiwari A et al.

Scientific Reports, 2016

27353947 (PubMed )
Supplement: srep28755-s1.pdf
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