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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TRIP11

Variant:p.E547G

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TRIP11

NM_004239.4:p.E547G

hg38:chr14:92006336 T>C

Associated Papers

A common pathomechanism in GMAP-210- and LBR-related diseases.

Wehrle A et al.

Jci Insight, 2018

30518689 (PubMed )

Supplement: jciinsight-3-121150-s099.pdf

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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."