Varaico: Literature-Extracted Genetic Variants

Gene:LZTR1
Variant:p.S373_K375del3
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LZTR1

NM_006767.4:p.S373_K375del3

Associated Papers

Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.

Mastromoro G et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

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

Uliana V et al.

Genes, 2024

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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."