Varaico: Literature-Extracted Genetic Variants

Gene:CTNNB1
Variant:p.L580_A581Fs
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CTNNB1

NM_001904.4:p.L580_A581Fs

Associated Papers

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

Ho S et al.

American Journal of Medical Genetics. Part A, 2022

Missense variants in CTNNB1 can be associated with vitreoretinopathy-Seven new cases of CTNNB1-associated neurodevelopmental disorder including a previously unreported retinal phenotype.

Rossetti LZ et al.

Molecular Genetics & Genomic Medicine, 2021

33350591 (PubMed )
Supplement: MGG3-9-e1542-s002.xlsx › All_Patients_in_Literature

Germline Mutations in CTNNB1 Associated With Syndromic FEVR or Norrie Disease.

Sun W et al.

Investigative Ophthalmology & Visual Science, 2019

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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."