Varaico: Literature-Extracted Genetic Variants

Gene:SETD5
Variant:p.S1370fs
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SETD5

NM_001080517.3:p.S1370fs

Associated Papers

Neurological and psychiatric phenotype of a multicenter cohort of patients with SETD5-related neurodevelopmental disorder.

De Falco A et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2025

The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.

Maksiutenko EM et al.

International Journal of Molecular Sciences, 2023

38139401 (PubMed )
Supplement: ijms-24-17572-s001.zip › Supplementary_Table_S1.xlsx › Sheet1
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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."