Varaico: Literature-Extracted Genetic Variants

Gene:HECW2
Variant:p.L1448W
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HECW2

NM_001348768.2:p.L1448W

Associated Papers

The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.

Pang N et al.

Bmc Medicine, 2025

40598568 (PubMed )
Supplement: 12916_2025_4220_MOESM1_ESM.xlsx › Table_S3

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

A novel HECW2 variant in an infant with congenital long QT syndrome.

Imanishi R et al.

Human Genome Variation, 2023

Corrigendum to "HECW2-related disorder in four Japanese patients. Am J Med Genet Part A. First published: 28 May 2021 https://doi.org/10.1002/ajmg.a.62363".

Yanagishita T et al.

American Journal of Medical Genetics. Part A, 2021

HECW2-related disorder in four Japanese patients.

Yanagishita T et al.

American Journal of Medical Genetics. Part A, 2021

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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."