Varaico: Literature-Extracted Genetic Variants

Gene:ABL1
Variant:p.G463D
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ABL1

NM_005157.6:p.G463D

Associated Papers

Inotuzumab therapy resulted in molecular remission of relapsed/resistant B-cell acute lymphoblastic leukemia with BCR::ABL1 Lys404Glu mutation.

Lewandowski K et al.

Annals of Hematology, 2025

Haploinsufficiency of ABL1 is associated with dominant isolated omphalocele.

Kolvenbach CM et al.

Frontiers in Cell and Developmental Biology, 2025

Expanding the phenotypes of ABL1 deficiency syndromes: When mutations in different isoforms Lead to different diseases.

Chouery E et al.

Clinical Genetics, 2024

Impact of BCR::ABL1 single nucleotide variants on asciminib efficacy.

Innes AJ et al.

Leukemia, 2024

Development of asciminib, a novel allosteric inhibitor of BCR-ABL1.

Réa D et al.

Critical Reviews in Oncology/hematology, 2022

Further delineation of van den Ende-Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome.

Hildebrandt CC et al.

American Journal of Medical Genetics. Part A, 2021

BCR-ABL1 compound mutations in tyrosine kinase inhibitor-resistant CML: frequency and clonal relationships.

Khorashad JS et al.

Blood, 2013

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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."