Varaico: Literature-Extracted Genetic Variants

Gene:AMER1
Variant:p.R203_P204delFs
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AMER1

NM_152424.4:p.R203_P204delFs

Associated Papers

Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation.

Hague J et al.

American Journal of Medical Genetics. Part A, 2017

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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."