Varaico: Literature-Extracted Genetic Variants

Gene:FAM111A
Variant:p.R76_T81del6
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FAM111A

NM_001312909.2:p.R76_T81del6

Associated Papers

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

Bonde LD et al.

Journal of Human Genetics, 2025

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