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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LMX1B

Variant:p.T125_F127delins

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LMX1B

NM_001174147.2:p.T125_F127delins

hg38:chr9:126690882 ACCGAGTT>GATCTTCGTGATGCGGG

Associated Papers

A familial case of nail patella syndrome with a heterozygous in-frame indel mutation in the LIM domain of LMX1B.

Mukai M et al.

Journal of Dermatological Science, 2018

29290531 (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."