Varaico: Literature-Extracted Genetic Variants

Gene:CTNNB1
Variant:p.D81Splc
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CTNNB1

NM_001904.4:p.D81Splc

Associated Papers

Genotypic, functional, and phenotypic characterization in CTNNB1 neurodevelopmental syndrome.

Žakelj N et al.

Hgg Advances, 2025

40684264 (PubMed )
Supplement: mmc3.xlsx › Case_Variants

Spectrum of inherited eye disorders at Hong Kong Children's Hospital: insights into the local genetic landscape and experience with ocular genetic services.

Cheng SSW et al.

Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi, 2025

40755077 (PubMed )
Supplement: hkmj2412298-supplementary.pdf

Correlation between Phenotype and Genotype in CTNNB1 Syndrome: A Systematic Review of the Literature.

Miroševič Š et al.

International Journal of Molecular Sciences, 2022

36293418 (PubMed )
Supplement: ijms-23-12564-s001.zip › ijms-1954579-supplementary.pdf

CTNNB1-related neurodevelopmental disorder in a Chinese population: A case series.

Ho S et al.

American Journal of Medical Genetics. Part A, 2022

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