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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LTBP1

Variant:p.T1331_S1332delFs

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LTBP1

NM_206943.4:p.T1331_S1332delFs

hg38:chr2:33347500 GACCTC>G

Associated Papers

Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.

Pottie L et al.

American Journal of Human Genetics, 2021

34861177 (PubMed )

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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."