Varaico: Literature-Extracted Genetic Variants

Gene:OR1E1
Variant:p.F189C
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OR1E1

NM_003553.3:p.F189C

Associated Papers

Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion.

Zhou C et al.

Chinese Medical Journal, 2023

37667433 (PubMed )
Supplement: cm9-136-2107-s002.xls › SHEET

Juvenile-Onset Diabetes and Congenital Cataract: "Double-Gene" Mutations Mimicking a Syndromic Diabetes Presentation.

Lenfant C et al.

Genes, 2017

29112131 (PubMed )
Supplement: genes-08-00309-s001.pdf
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