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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PBX1

Variant:p.L182P

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PBX1

NM_002585.4:p.L182P

hg38:chr1:164799733 T>C

Associated Papers

Missense variants in homeobox domain of PBX1 cause coracoclavicular ankylosis.

Iwai M et al.

European Journal of Human Genetics : Ejhg, 2026

41162587 (PubMed )

Supplement: 41431_2025_1973_MOESM1_ESM.pdf

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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."