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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FBN2

Variant:p.D1367Splc

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FBN2

NM_001999.4:p.D1367Splc

hg38:chr5:128333036 T>A

Associated Papers

Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year.

Stheneur C et al.

Pediatric Research, 2011

21135753 (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."