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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LIMS2

Variant:p.N114K

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LIMS2

NM_001136037.4:p.N114K

hg38:chr2:127654507 G>T

Associated Papers

LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues.

Chardon JW et al.

Clinical Genetics, 2015

25589244 (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."