Varaico: Literature-Extracted Genetic Variants

Gene:HNRNPU
Variant:p.D548fs
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HNRNPU

NM_031844.3:p.D548fs

Associated Papers

Expanding the phenotype of HNRNPU-related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature.

Taylor J et al.

American Journal of Medical Genetics. Part A, 2022

Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature review.

Durkin A et al.

American Journal of Medical Genetics. Part A, 2020

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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."