Varaico: Literature-Extracted Genetic Variants

Gene:AMER1
Variant:p.S324*
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AMER1

NM_152424.4:p.S324*

Associated Papers

Comparison of Genetic, Auditory Features, and Systemic Clinical Phenotype in 14 Families with Syndromic Hearing Loss.

Zheng Z et al.

The Application of Clinical Genetics, 2024

The phenotypic spectrum of AMER1-related osteopathia striata with cranial sclerosis: The first Canadian cohort.

Heikoop D et al.

American Journal of Medical Genetics. Part A, 2021

Distinct genomic subclasses of high-grade/progressive meningiomas: NF2-associated, NF2-exclusive, and NF2-agnostic.

Williams EA et al.

Acta Neuropathologica Communications, 2020

33087175 (PubMed )
Supplement: 40478_2020_1040_MOESM1_ESM.xlsx › Sheet1

Wilms tumor genetics: mutations in WT1, WTX, and CTNNB1 account for only about one-third of tumors.

Ruteshouser EC et al.

Genes, Chromosomes & Cancer, 2008

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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."