Varaico: Literature-Extracted Genetic Variants

Gene:MED13L
Variant:p.S1400_P1402del0
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MED13L

NM_015335.5:p.S1400_P1402del0

Associated Papers

MED13L-related disorder characterized by severe motor speech impairment.

Mitchel MW et al.

Journal of Neurodevelopmental Disorders, 2025

40993520 (PubMed )
Supplement: 11689_2025_9645_MOESM1_ESM.xlsx › Table_S2

Improvement of variant reclassification in genetic neurodevelopmental conditions.

Kowanda M et al.

Genetics in Medicine Open, 2024

39669614 (PubMed )
Supplement: mmc2.xlsx › Classification_criteria_applied
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