Varaico: Literature-Extracted Genetic Variants

Gene:PBX1
Variant:p.R107Q
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PBX1

NM_002585.4:p.R107Q

Associated Papers

Functional Characterization of a Novel PBX1 De Novo Missense Variant Identified in a Pediatric Patient with CAKUT.

Scolari C et al.

Genes, 2025

41300798 (PubMed )
Supplement: genes-16-01346-s001.zip › genes-3940097-supplementary.pdf

Functional Assessment of a New PBX1 Variant in a 46,XY Fetus with Severe Syndromic Difference of Sexual Development through CRISPR-Cas9 Gene Editing.

Mary L et al.

Genes, 2023

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