Varaico: Literature-Extracted Genetic Variants

Gene:OTOP2
Variant:p.A68V
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OTOP2

NM_178160.3:p.A68V

Associated Papers

Homozygous synonymous FAM111A variant underlies an autosomal recessive form of Kenny-Caffey syndrome.

Bonde LD et al.

Journal of Human Genetics, 2025

39501122 (PubMed )
Supplement: 10038_2024_1301_MOESM1_ESM.pdf
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