Varaico: Literature-Extracted Genetic Variants

Gene:AMER1
Variant:p.Q349*
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AMER1

NM_152424.4:p.Q349*

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

A tailored molecular profiling programme for children with cancer to identify clinically actionable genetic alterations.

George SL et al.

European Journal of Cancer (oxford, England : 1990), 2019

31543384 (PubMed )
Supplement: mmc3.xlsx › Sheet1

Novel AMER1 frameshift mutation in a girl with osteopathia striata with cranial sclerosis.

Enomoto Y et al.

Congenital Anomalies, 2018

A novel WTX mutation in a female patient with osteopathia striata with cranial sclerosis and hepatoblastoma.

Fujita A et al.

American Journal of Medical Genetics. Part A, 2014

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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."