Associated Papers
The Arg99Gln Substitution in HNRNPC Is Associated with a Distinctive Clinical Phenotype Characterized by Facial Dysmorphism and Ocular and Cochlear Anomalies.
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Genes, 2025
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
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
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33874999 (PubMed )
Supplement: 13073_2021_870_MOESM1_ESM.xlsx › Table_S10__3_probands
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