Varaico: Literature-Extracted Genetic Variants

Gene:LZTR1
Variant:p.V347_P348insC
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LZTR1

NM_006767.4:p.V347_P348insC

Associated Papers

Comparison of the frequency of loss-of-function LZTR1 variants between schwannomatosis patients and the general population.

Deng F et al.

Human Mutation, 2022

35391499 (PubMed )
Supplement: HUMU-43-919-s002.xlsx › Sheet1

The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis.

Kehrer-Sawatzki H et al.

Human Genetics, 2017

27921248 (PubMed )
Supplement: 439_2016_1753_MOESM1_ESM.doc

Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.

Yamamoto GL et al.

Journal of Medical Genetics, 2015

Whole exome sequencing reveals that the majority of schwannomatosis cases remain unexplained after excluding SMARCB1 and LZTR1 germline variants.

Hutter S et al.

Acta Neuropathologica, 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."