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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MATN3

Variant:p.A27_P28delFs

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MATN3

NM_002381.5:p.A27_P28delFs

hg38:chr2:20012547 CGGGG>C

Associated Papers

Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia.

Mabuchi A et al.

Human Mutation, 2004

15459972 (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."