Varaico: Literature-Extracted Genetic Variants

Gene:LZTR1
Variant:p.A249P
Back to variants list

LZTR1

NM_006767.4:p.A249P

Associated Papers

Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.

Pagnamenta AT et al.

Clinical Genetics, 2019

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

Johnston JJ et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

Expansion of the RASopathies.

Tidyman WE et al.

Current Genetic Medicine Reports, 2016

Recent advances in RASopathies.

Aoki Y et al.

Journal of Human Genetics, 2016

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

Yamamoto GL et al.

Journal of Medical Genetics, 2015

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."