figshare
Browse
13023_2024_3069_MOESM1_ESM.docx (633.01 kB)

Additional file 1 of Rare variants in alpha 1 antitrypsin deficiency: a systematic literature review

Download (633.01 kB)
journal contribution
posted on 2024-02-23, 04:31 authored by Ilaria Ferrarotti, Marion Wencker, Joanna Chorostowska-Wynimko
Additional file 1: Fig. S1. Rare AATD variants with ≥ 10–99 reports worldwide. Fig. S2. Geographical location of rare AATD variants reported only once. Table S1. List of the 864 articles identified by the search string that contained useful information on AATD variants for this study. Table S2. Number of articles identified in each country. Table S3. Most common rare AATD variants worldwide. Table S4. Total number of rare AATD variants reported in each geographical region. Table S5. Most common rare AATD variants by geographical region. Table S6. Total number of rare AATD variants by country. Table S7. List of all rare AATD variants reported and HGVS nomenclature.

Funding

CSL Behring

History

Usage metrics

    Orphanet Journal of Rare Diseases

    Exports

    RefWorks
    BibTeX
    Ref. manager
    Endnote
    DataCite
    NLM
    DC