Varaico: Literature-Extracted Genetic Variants

Gene:AMER1
Variant:p.K87delFs
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AMER1

NM_152424.4:p.K87delFs

Associated Papers

Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.

Hartley T et al.

Clinical Genetics, 2023

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

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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."