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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ITGA9

Variant:p.V825D

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ITGA9

NM_002207.3:p.V825D

hg38:chr3:37750502 T>A

Associated Papers

Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome.

Toydemir RM et al.

Nature Genetics, 2006

16642020 (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."