Varaico: Literature-Extracted Genetic Variants

Gene:SERAC1
Variant:p.R468Splc
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SERAC1

NM_032861.4:p.R468Splc

Associated Papers

Endocrine Disorders in Children with Primary Mitochondrial Diseases: Single Center Experience

Papatya Çakır ED et al.

Journal of Clinical Research in Pediatric Endocrinology, 2025

Clinical and Genetic Spectrum of Patients With Mitochondrial Disease in a Pediatric Egyptian Cohort: Novel Variants and Phenotypic Expansion.

Hassaan HM et al.

American Journal of Medical Genetics. Part A, 2025

Expanding the Epidemiological and Phenotypic Spectrum of MEGDEL Syndrome: The First Case Report From Egypt.

Sadek AA et al.

Clinical Medicine Insights. Pediatrics, 2025

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