Varaico: Literature-Extracted Genetic Variants

Gene:LZTR1
Variant:p.P281fs
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LZTR1

NM_006767.4:p.P281fs

Associated Papers

A Pain in the Neck: Lessons Learnt from Genetic Testing in Fetuses Detected with Nuchal Fluid Collections, Increased Nuchal Translucency versus Cystic Hygroma-Systematic Review of the Literature, Meta-Analysis and Case Series.

Mastromoro G et al.

Diagnostics (basel, Switzerland), 2022

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

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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."