Varaico: Literature-Extracted Genetic Variants

Gene:OR2A12
Variant:p.L102delFs
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OR2A12

NM_001004135.2:p.L102delFs

Associated Papers

Compound heterozygous WNT10A missense variations exacerbated the tooth agenesis caused by hypohidrotic ectodermal dysplasia.

Liu Y et al.

Bmc Oral Health, 2024

38280992 (PubMed )
Supplement: 12903_2024_3888_MOESM2_ESM.xls › Supplementary_Table_1

Rare variant of the epigenetic regulator SMCHD1 in a patient with pituitary hormone deficiency.

Kinjo K et al.

Scientific Reports, 2020

32620854 (PubMed )
Supplement: 41598_2020_67715_MOESM2_ESM.xlsx › Supplementary_Table_1
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