Varaico: Literature-Extracted Genetic Variants

Gene:LZTR1
Variant:p.R198Splc
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LZTR1

NM_006767.4:p.R198Splc

Associated Papers

Phenotypic Expansion of Autosomal Dominant LZTR1-Related Disorders with Special Emphasis on Adult-Onset Features.

Uliana V et al.

Genes, 2024

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

Spontaneous resolution of nonimmune hydrops fetalis in a fetus with TP63 gene mutation and LZTR1 gene variants.

Hurni Y et al.

Clinical Case Reports, 2021

Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.

Umeki I et al.

Human Genetics, 2019

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

Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas.

Piotrowski A et al.

Nature Genetics, 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."