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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EIF2B1

Variant:p.D158H

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EIF2B1

NM_001414.4:p.D158H

hg38:chr12:123627054 C>G

Associated Papers

A case of cohesinopathy with a novel de-novo SMC1A splice site mutation.

Hansen J et al.

Clinical Dysmorphology, 2013

23863341 (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."