Varaico: Literature-Extracted Genetic Variants

Gene:MED13L
Variant:p.D1314_I1315delFs
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MED13L

NM_015335.5:p.D1314_I1315delFs

Associated Papers

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.

Chevarin M et al.

Journal of Medical Genetics, 2020

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.

Smol T et al.

Neurogenetics, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."