Varaico: Literature-Extracted Genetic Variants

Gene:HNRNPC
Variant:p.F19fs
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HNRNPC

NM_004500.4:p.F19fs

Associated Papers

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

Niggl E et al.

American Journal of Human Genetics, 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."