Varaico: Literature-Extracted Genetic Variants

Gene:AMER1
Variant:p.E370*
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AMER1

NM_152424.4:p.E370*

Associated Papers

Concomitant MEK and Cyclin Gene Alterations: Implications for Response to Targeted Therapeutics.

Kato S et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2021

Targeting G1/S phase cell-cycle genomic alterations and accompanying co-alterations with individualized CDK4/6 inhibitor-based regimens.

Kato S et al.

Jci Insight, 2021

33427211 (PubMed )
Supplement: jciinsight-6-142547-s159.pdf

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

Osteopathia striata with cranial sclerosis and developmental delay in a male with a mosaic deletion in chromosome region Xq11.2.

Chénier S et al.

American Journal of Medical Genetics. Part A, 2012

Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis.

Perdu B et al.

Clinical Genetics, 2011

Mosaicism in osteopathia striata with cranial sclerosis.

Joseph DJ et al.

The Journal of Clinical Endocrinology and Metabolism, 2010

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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."