Varaico: Literature-Extracted Genetic Variants

Gene:FBN2
Variant:p.E1370*
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FBN2

NM_001999.4:p.E1370*

Associated Papers

Carrying both COL1A2 and FBN2 gene heterozygous mutations results in a severe skeletal clinical phenotype: an affected family.

Chen J et al.

Bmc Medical Genomics, 2022

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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."