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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SERPINF1

Variant:p.L286_E290del0

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SERPINF1

NM_002615.7:p.L286_E290del0

hg38:chr17:1776601 TTGACCTTGATAG>T

Associated Papers

Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.

Scocchia A et al.

Orphanet Journal of Rare Diseases, 2021

34627339 (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."