Varaico: Literature-Extracted Genetic Variants

Gene:LZTR1
Variant:p.T264Splc
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LZTR1

NM_006767.4:p.T264Splc

Associated Papers

GenTIGS: a database empowering research and clinical insights on rare genetic disorders with an Indian perspective.

Rashid I et al.

Nar Genomics and Bioinformatics, 2025

41229399 (PubMed )
Supplement: lqaf143_supplemental_file.xls › Pathogenic_Likely_Pathogenic

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

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