Varaico: Literature-Extracted Genetic Variants

Gene:FBN2
Variant:p.N2572S
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FBN2

NM_001999.4:p.N2572S

Associated Papers

Targeted next-generation sequencing reveals the genetic mechanism of Chinese Marfan syndrome cohort with ocular manifestation.

Han D et al.

Molecular Genetics & Genomic Medicine, 2024

38958168 (PubMed )
Supplement: MGG3-12-e2482-s006.xlsx › Supplementary_table_3
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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."