Varaico: Literature-Extracted Genetic Variants

Gene:ADIPOR1
Variant:p.Y310C
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ADIPOR1

NM_015999.6:p.Y310C

Associated Papers

Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.

Matczyńska E et al.

Biomedicines, 2024

38927562 (PubMed )
Supplement: biomedicines-12-01355-s001.zip › Table_S2_Patients_and_variants.xlsx › merged_variants_and_patients_co

A mutation in ADIPOR1 causes nonsyndromic autosomal dominant retinitis pigmentosa.

Zhang J et al.

Human Genetics, 2016

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