Varaico: Literature-Extracted Genetic Variants

Gene:HNRNPU
Variant:p.G133C
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HNRNPU

NM_031844.3:p.G133C

Associated Papers

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.

Depienne C et al.

Human Genetics, 2017

28283832 (PubMed )
Supplement: 439_2017_1772_MOESM10_ESM.xlsx › Feuil1
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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."