Varaico: Literature-Extracted Genetic Variants

Gene:LTBP4
Variant:p.L264delFs
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LTBP4

NM_001042545.2:p.L264delFs

Associated Papers

Clinical and molecular characterization of an 18-month-old infant with autosomal recessive cutis laxa type 1C due to a novel LTBP4 pathogenic variant, and literature review.

Ritelli M et al.

Molecular Genetics & Genomic Medicine, 2019

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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."