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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DNM2

Variant:p.I171N

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DNM2

NM_001005361.3:p.I171N

hg38:chr19:10775829 T>A

Associated Papers

Mutations in two regions of FLNB result in atelosteogenesis I and III.

Farrington-Rock C et al.

Human Mutation, 2006

16752402 (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."