Varaico: Literature-Extracted Genetic Variants

Gene:SERAC1
Variant:p.Y259*
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SERAC1

NM_032861.4:p.Y259*

Associated Papers

Atypical MEGDHEL Syndrome: A Milder Phenotype With Hepatic Presentation and Failure to Thrive Associated With a Homozygous Nonsense Variant of SERAC1.

Marchante Pita R et al.

Jimd Reports, 2025

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