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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MED16

Variant:p.R579_L580delFs

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MED16

NM_005481.3:p.R579_L580delFs

hg38:chr19:875274 TCAGCC>T

Associated Papers

A brain somatic RHEB doublet mutation causes focal cortical dysplasia type II.

Zhao S et al.

Experimental & Molecular Medicine, 2019

31337748 (PubMed )

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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."