Varaico: Literature-Extracted Genetic Variants

Gene:POU3F1
Variant:p.D331_Q336del0
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POU3F1

NM_002699.4:p.D331_Q336del0

Associated Papers

Coexistence of severe developmental delay, epilepsy, and hemangioma in Snijders Blok-Fisher syndrome suggests the presence of a POU3F3-related SNIBFIS endophenotype: A case report.

Torun D et al.

American Journal of Medical Genetics. Part A, 2021

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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."