Varaico: Literature-Extracted Genetic Variants

Gene:TRIP11
Variant:p.K509_H510Splc
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TRIP11

NM_004239.4:p.K509_H510Splc

Associated Papers

Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A.

Upadhyai P et al.

Human Mutation, 2021

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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."