Varaico: Literature-Extracted Genetic Variants

Gene:LZTR1
Variant:p.D654G
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LZTR1

NM_006767.4:p.D654G

Associated Papers

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

Uliana V et al.

Genes, 2024

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

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

Yamamoto GL et al.

Journal of Medical Genetics, 2015

Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis.

Smith MJ et al.

Neurology, 2015

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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."