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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MMP13

Variant:p.E40_R41Splc

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MMP13

NM_002427.4:p.E40_R41Splc

hg38:chr11:102955585 C>T

Associated Papers

Four novel RUNX2 mutations including a splice donor site result in the cleidocranial dysplasia phenotype.

Kim HJ et al.

Journal of Cellular Physiology, 2006

16270353 (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."