Varaico: Literature-Extracted Genetic Variants

Gene:SERPINF1
Variant:p.K262_I263Splc
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SERPINF1

NM_002615.7:p.K262_I263Splc

Associated Papers

Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.

Zhang P et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

37931111 (PubMed )
Supplement: pnas.2314225120.sd01.xlsx › Dataset_S1._patho_AG-gain_var

Whole-Exome Sequencing Identifies an Intronic Cryptic Splice Site in SERPINF1 Causing Osteogenesis Imperfecta Type VI.

Jin Z et al.

Jbmr Plus, 2018

Long-term follow-up in osteogenesis imperfecta type VI.

Trejo P et al.

Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2017

Osteogenesis Imperfecta Type VI in Individuals from Northern Canada.

Ward L et al.

Calcified Tissue International, 2016

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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."