Varaico: Literature-Extracted Genetic Variants

Gene:LZTR1
Variant:p.S244P
Back to variants list

LZTR1

NM_006767.4:p.S244P

Associated Papers

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

Uliana V et al.

Genes, 2024

Preclinical evaluation of CRISPR-based therapies for Noonan syndrome caused by deep-intronic LZTR1 variants.

Knauer C et al.

Molecular Therapy. Nucleic Acids, 2024

LZTR1 molecular genetic overlap with clinical implications for Noonan syndrome and schwannomatosis.

Farncombe KM et al.

Bmc Medical Genomics, 2022

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

Pagnamenta AT et al.

Clinical Genetics, 2019

LZTR1: Genotype Expansion in Noonan Syndrome.

Güemes M et al.

Hormone Research in Paediatrics, 2019

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."