Varaico: Literature-Extracted Genetic Variants

Gene:SERPINF1
Variant:p.A131D
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SERPINF1

NM_002615.7:p.A131D

Associated Papers

The landscape of rare genetic variants in familial Waldenström macroglobulinemia.

Pemov A et al.

Blood Neoplasia, 2024

39036705 (PubMed )
Supplement: BNEO_NEO-2023-000111-mmc4.xlsx › Supplementary_Table_4

Osteoporosis related to WNT1 variants: a not infrequent cause of osteoporosis.

Peris 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, 2023

Genetics of otosclerosis: finally catching up with other complex traits?

Tavernier LJM et al.

Human Genetics, 2022

Deciphering the Genetics of Primary Angioedema with Normal Levels of C1 Inhibitor.

Loules G et al.

Journal of Clinical Medicine, 2020

33114181 (PubMed )
Supplement: jcm-09-03402-s001.zip › jcm-959403-supplementary.xlsx › Table_S2

Insufficient evidence for a role of SERPINF1 in otosclerosis.

Valgaeren H et al.

Molecular Genetics and Genomics : Mgg, 2019

Mutations and altered expression of SERPINF1 in patients with familial otosclerosis.

Ziff JL et al.

Human Molecular Genetics, 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."