Varaico: Literature-Extracted Genetic Variants

Gene:HEPHL1
Variant:p.R953*
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HEPHL1

NM_001098672.2:p.R953*

Associated Papers

Maximizing Diagnostic Yield in Intellectual Disability Through Exome Sequencing: Genotype-Phenotype Insights in a Vietnamese Cohort.

Hoang TL et al.

Diagnostics (basel, Switzerland), 2025

Clinical cancer genomic profiling by three-platform sequencing of whole genome, whole exome and transcriptome.

Rusch M et al.

Nature Communications, 2018

30262806 (PubMed )
Supplement: 41467_2018_6485_MOESM9_ESM.xlsx › 6A.EXONIC_SNV_VALIDATION
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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."