Varaico: Literature-Extracted Genetic Variants

Gene:AMER1
Variant:p.Q271*
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AMER1

NM_152424.4:p.Q271*

Associated Papers

Comprehensive genomic characterization of sporadic synchronous colorectal cancer: Implications for treatment optimization and clinical outcome.

Yang LP et al.

Cell Reports. Medicine, 2023

37794586 (PubMed )
Supplement: mmc4.xlsx › TCGA_path_oncokb

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

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

Perdu B et al.

Clinical Genetics, 2011

The male phenotype in osteopathia striata congenita with cranial sclerosis.

Holman SK et al.

American Journal of Medical Genetics. Part A, 2011

Osteopathia striata with cranial sclerosis owing to WTX gene defect.

Perdu B et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2010

[Osteopathia striata with cranial sclerosis].

Barbosa M et al.

Acta Medica Portuguesa, 0

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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."