Varaico: Literature-Extracted Genetic Variants

Gene:ABL1
Variant:p.Q300E
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ABL1

NM_005157.6:p.Q300E

Associated Papers

A Novel Missense Mutation of the ABL1 Gene in a Child With Congenital Heart Defects and Skeletal Malformations Syndrome.

Chen TY et al.

American Journal of Medical Genetics. Part A, 2025

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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."