Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA1
Variant:p.G216Splc
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SERPINA1

NM_000295.5:p.G216Splc

Associated Papers

Genomic Profiling of Cardiac Angiosarcoma Reveals Novel Targetable KDR Variants, Recurrent MED12 Mutations, and a High Burden of Germline POT1 Alterations.

Odintsov I et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

39820259 (PubMed )
Supplement: ccr-24-3277_supplementary_table_s1_suppts1.xlsx › SNV_INDEL

Molecular Basis of β-Thalassemia in the Population of the Aegean Region of Turkey: Identification of A Novel Deletion Mutation.

Ozkinay F et al.

Hemoglobin, 2015

Utility of the multivariate approach in predicting β-thalassemia intermedia or β-thalassemia major types In Iranian patients.

Banan M et al.

Hemoglobin, 2013

Genotyping of β-globin gene mutations in single lymphocytes: a preliminary study for preimplantation genetic diagnosis of monogenic disorders.

Durmaz B et al.

Hemoglobin, 2012

The XmnI and BCL11A single nucleotide polymorphisms may help predict hydroxyurea response in Iranian β-thalassemia patients.

Banan M et al.

Hemoglobin, 2012

Comprehensive spectrum of the β-Thalassemia mutations in Khuzestan, southwest Iran.

Galehdari H et al.

Hemoglobin, 2010

Molecular basis of thalassemia intermedia in Iran.

Akbari MT et al.

Hemoglobin, 2008

Study of beta-Thalassemia mutations using the polymerase chain reaction-amplification refractory mutation system and direct DNA sequencing techniques in a group of Egyptian Thalassemia patients.

El-Gawhary S et al.

Hemoglobin, 2007

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