Varaico: Literature-Extracted Genetic Variants

Gene:POU5F1
Variant:p.G302E
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POU5F1

NM_002701.6:p.G302E

Associated Papers

A human induced pluripotent stem cell model from a patient with hereditary cerebral small vessel disease carrying a heterozygous R302Q mutation in HTRA1.

Qian E et al.

Inflammation and Regeneration, 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."