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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AMER1

Variant:p.E206*

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AMER1

NM_152424.4:p.E206*

hg38:chrX:64192671 C>A

Associated Papers

The phenotypic spectrum of AMER1-related osteopathia striata with cranial sclerosis: The first Canadian cohort.

Heikoop D et al.

American Journal of Medical Genetics. Part A, 2021

34414661 (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."