Varaico: Literature-Extracted Genetic Variants

Gene:AMER1
Variant:p.G502delFs
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AMER1

NM_152424.4:p.G502delFs

Associated Papers

Osteopathia striata with cranial sclerosis as a cancer predisposition syndrome: The first report of neuroblastoma and review of all cancers in OSCS.

Abu-El-Haija A et al.

American Journal of Medical Genetics. Part A, 2024

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

Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis.

Jenkins ZA et al.

Nature Genetics, 2009

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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."