Varaico: Literature-Extracted Genetic Variants

Gene:LZTR1
Variant:p.V24I
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LZTR1

NM_006767.4:p.V24I

Associated Papers

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

Farncombe KM et al.

Bmc Medical Genomics, 2022

A Chinese family with Noonan syndrome caused by a heterozygous variant in LZTR1: a case report and literature review.

Zhao X et al.

Bmc Endocrine Disorders, 2021

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

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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."