Associated Papers
A Novel HECW2 Variant (c.4354G>A; p. Gly1452Ser) in a Chinese Patient with Developmental Delay, Neurodevelopmental Delay, and Hypotonia.
Zeng L et al.
Molecular Syndromology, 2025
Identification of Neurotransmission and Synaptic Biological Processes Disrupted in Autism Spectrum Disorder Using Interaction Networks and Community Detection Analysis.
Vilela J et al.
Biomedicines, 2023
38001974 (PubMed )
Supplement: biomedicines-11-02971-s001.zip › Supplementary_Table_S5.xlsx › S5
A novel HECW2 variant in an infant with congenital long QT syndrome.
Imanishi R et al.
Human Genome Variation, 2023
37280227 (PubMed )
Supplement: 41439_2023_245_MOESM1_ESM.xlsx › Sheet1
First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL.
Rodríguez-García ME et al.
Human Mutation, 2022
A novel likely pathogenic heterozygous HECW2 missense variant in a family with variable expressivity of neurodevelopmental delay, hypotonia, and epileptiform EEG patterns.
Heide EC et al.
American Journal of Medical Genetics. Part A, 2021
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