Varaico: Literature-Extracted Genetic Variants

Gene:CTNNB1
Variant:p.H369fs
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CTNNB1

NM_001904.4:p.H369fs

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

Novel mutation in CTNNB1 causes familial exudative vitreoretinopathy (FEVR) and microcephaly: case report and review of the literature.

Coussa RG et al.

Ophthalmic Genetics, 2020

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

Sun W et al.

Investigative Ophthalmology & Visual Science, 2019

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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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."