Varaico: Literature-Extracted Genetic Variants

Gene:ETFB
Variant:p.R76H
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ETFB

NM_001985.3:p.R76H

Associated Papers

Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia.

Repiská G et al.

Genes, 2025

40869941 (PubMed )
Supplement: genes-16-00893-s001.zip › File_S1.xlsx › suplement

Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.

Shchubelka K et al.

Journal of Neurodevelopmental Disorders, 2024

38539105 (PubMed )
Supplement: 11689_2024_9528_MOESM2_ESM.xlsx › Undiagnosed

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Fichna JP et al.

Human Genomics, 2018

29970176 (PubMed )
Supplement: 40246_2018_167_MOESM2_ESM.xlsx › individual
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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."