Varaico: Literature-Extracted Genetic Variants

Gene:MED13L
Variant:p.E1374delFs
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MED13L

NM_015335.5:p.E1374delFs

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

Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.

Jain R et al.

Genetics in Medicine Open, 2025

40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1

Spectrum of neuro-genetic disorders in the United Arab Emirates national population.

Saleh S et al.

Clinical Genetics, 2021

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