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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FBN1

Variant:p.D1070Splc

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FBN1

NM_000138.5:p.D1070Splc

hg38:chr15:48488363 C>T

Associated Papers

Neonatal Marfan syndrome: a case report of a novel fibrillin 1 mutation, with genotype-phenotype correlation and brief review of the literature.

Pugnaloni F et al.

Italian Journal of Pediatrics, 2024

39294662 (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."