Varaico: Literature-Extracted Genetic Variants

Gene:SMOC1
Variant:p.F114fs
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SMOC1

NM_001034852.3:p.F114fs

Associated Papers

A novel SMOC1 pathogenic homozygous variant in a fetus with mesomelia of the lower limbs, micrognathia and hypertelorism and an incidental finding of CYP21A2-related congenital adrenal hyperplasia.

Willison C et al.

Prenatal Diagnosis, 2023

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