Varaico: Literature-Extracted Genetic Variants

Gene:MED13L
Variant:p.L1409fs
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MED13L

NM_015335.5:p.L1409fs

Associated Papers

Case Report: Novel mutations in two patients with MED13L-related intellectual disability highlighting the importance of genetic counseling.

Cao H et al.

Frontiers in Genetics, 2025

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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."