Varaico: Literature-Extracted Genetic Variants

Gene:AMER1
Variant:p.L423fs
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AMER1

NM_152424.4:p.L423fs

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

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

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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."