Varaico: Literature-Extracted Genetic Variants

Gene:LTBP4
Variant:p.C793insFs
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LTBP4

NM_001042545.2:p.C793insFs

Associated Papers

Overview of the Pulmonary Manifestations in Patients with Autosomal Recessive Cutis Laxa Type IC.

Mutlu-Albayrak H et al.

Pediatric Allergy, Immunology, and Pulmonology, 2020

Identification of a Novel 19-bp Deletion Mutation in LTBP4 Using Exome Sequencing in Two Siblings with Autosomal Recessive Cutis Laxa Type 1C.

Gupta N et al.

Journal of Pediatric Genetics, 2020

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

Latent transforming growth factor binding protein 4 regulates transforming growth factor beta receptor stability.

Su CT et al.

Human Molecular Genetics, 2015

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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."