Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A2
Variant:p.Q288fs
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SLC16A2

NM_006517.5:p.Q288fs

Associated Papers

Patients with Allan-Herndon-Dudley Syndrome (MCT8 Deficiency) Display Symptoms of Parkinsonism in Childhood and Respond to Levodopa/Carbidopa Treatment.

Wilpert NM et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2025

Normal Values for the fT3/fT4 Ratio: Centile Charts (0-29 Years) and Their Application for the Differential Diagnosis of Children with Developmental Delay.

Wilpert NM et al.

International Journal of Molecular Sciences, 2024

39201272 (PubMed )
Supplement: ijms-25-08585-s001.zip › Table_S1.xlsx › Table_S1
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