Varaico: Literature-Extracted Genetic Variants

Gene:EFEMP1
Variant:p.R208*
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EFEMP1

NM_001039348.3:p.R208*

Associated Papers

Whole-genome sequencing reveals the evolutionary trajectory of HBV-related hepatocellular carcinoma early recurrence.

Zhou SL et al.

Signal Transduction and Targeted Therapy, 2022

35078970 (PubMed )
Supplement: 41392_2021_838_MOESM2_ESM.xlsx › Table_S14

Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.

Najafi A et al.

Clinical Genetics, 2020

31506931 (PubMed )
Supplement: CGE-97-235-s002.xlsx › All_variants_annotated

Frequent mutations of RetNet genes in eoHM: Further confirmation in 325 probands and comparison with late-onset high myopia based on exome sequencing.

Zhou L et al.

Experimental Eye Research, 2018

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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."