Varaico: Literature-Extracted Genetic Variants

Gene:CTNNB1
Variant:p.Q165*
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CTNNB1

NM_001904.4:p.Q165*

Associated Papers

Mutational scanning reveals substrate-assisted autoregulation of the WNT destruction complex.

Padmanarayana M et al.

Biorxiv : the Preprint Server for Biology, 2025

41278994 (PubMed )
Supplement: media-1.xlsx › WNT_DC_CBE_Screen

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

RET Aberrations in Diverse Cancers: Next-Generation Sequencing of 4,871 Patients.

Kato S et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017

27683183 (PubMed )
Supplement: 10780432ccr161679-sup-168576_1_supp_3636667_wcc1ns.docx

Whole Exome Sequencing Identified two Novel Truncation Mutations in the CTNNB1 Gene Associated with Neurodevelopmental Disorder, Language Dysfunction, and Microcephaly in Chinese Children.

Ji Y et al.

Child Neurology Open, 0

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