Varaico: Literature-Extracted Genetic Variants

Gene:CTNNB1
Variant:p.S45fs
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CTNNB1

NM_001904.4:p.S45fs

Associated Papers

Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing.

Lecoquierre F et al.

Scientific Reports, 2024

38438430 (PubMed )
Supplement: 41598_2024_53358_MOESM2_ESM.xlsx › Supp_table_1_variants_analyzed

The extended clinical and genetic spectrum of CTNNB1-related neurodevelopmental disorder.

Lee S et al.

Frontiers in Pediatrics, 2022

The molecular landscape of ETMR at diagnosis and relapse.

Lambo S et al.

Nature, 2019

31802000 (PubMed )
Supplement: NIHMS1541318-supplement-Supplementary_Table_5.xlsx › Somatic_SNVs_indels_primary
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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."