Varaico: Literature-Extracted Genetic Variants

Gene:ABL1
Variant:p.A506T
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ABL1

NM_007313.3:p.A506T

Associated Papers

Human ABL1 deficiency syndrome (HADS) is a recognizable syndrome distinct from ABL1-related congenital heart defects and skeletal malformations syndrome.

AlAbdi L et al.

Human Genetics, 2024

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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."