Varaico: Literature-Extracted Genetic Variants

Gene:PRDM1
Variant:p.T524R
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PRDM1

NM_001198.4:p.T524R

Associated Papers

Human split hand/foot variants are not as functional as wildtype human PRDM1 in the rescue of craniofacial defects.

Truong BT et al.

Birth Defects Research, 2024

PRDM1 DNA-binding zinc finger domain is required for normal limb development and is disrupted in split hand/foot malformation.

Truong BT et al.

Disease Models & Mechanisms, 2023

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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."