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Comparison of the frequency of loss‐of‐function LZTR1 variants between schwannomatosis patients and the general population
Schwannomatosis is a rare tumor predisposition syndrome that causes multiple schwannomas. Germline loss‐of‐function (LoF) LZTR1 variants were only recently identified as disease‐causing, so relatively few variants have been identified in patients. In addition, many LoF variants exist in Genome Aggre...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9324957/ https://www.ncbi.nlm.nih.gov/pubmed/35391499 http://dx.doi.org/10.1002/humu.24376 |