Varaico: Literature-Extracted Genetic Variants

Gene:MED13L
Variant:p.T857_D860del0
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MED13L

NM_015335.5:p.T857_D860del0

Associated Papers

Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach.

Jaramillo Oquendo C et al.

Genome Medicine, 2024

Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.

Wai HA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32123317 (PubMed )
Supplement: 41436_2020_766_MOESM3_ESM.xlsx › Variant_summary
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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."