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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MYO5B

Variant:p.Q452_I455ins1

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MYO5B

NM_001080467.3:p.Q452_I455ins1

hg38:chr18:49962989 A>ATACAGAACT

Associated Papers

An overview and online registry of microvillus inclusion disease patients and their MYO5B mutations.

van der Velde KJ et al.

Human Mutation, 2013

24014347 (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."