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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TRIP11

Variant:p.K541R

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TRIP11

NM_004239.4:p.K541R

hg38:chr14:92006354 T>C

Associated Papers

Hypomorphic mutations of TRIP11 cause odontochondrodysplasia.

Wehrle A et al.

Jci Insight, 2019

30728324 (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."