Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA1
Variant:p.G216Splc
Back to variants list

SERPINA1

NM_000295.5:p.G216Splc

Associated Papers

A novel alpha-1 antitrypsin gene variant in a patient with Kartagener's syndrome: a case report.

Ozdemir L et al.

Croatian Medical Journal, 2024

Distribution of alpha1 antitrypsin rare alleles in six countries: Results from the Progenika diagnostic network.

Lopez-Campos JL et al.

Human Genomics, 2023

Background splicing as a predictor of aberrant splicing in genetic disease.

Alexieva D et al.

Rna Biology, 2022

35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › Table_S2_DBASS5_index

Alpha1-antitrypsin deficiency: a clinical-genetic overview.

Abboud RT et al.

The Application of Clinical Genetics, 2011

Update on and future perspectives for the diagnosis of alpha-1 antitrypsin deficiency in Brazil.

Jardim JR et al.

Jornal Brasileiro De Pneumologia : Publicacao Oficial Da Sociedade Brasileira De Pneumologia E Tisilogia, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."