Varaico: Literature-Extracted Genetic Variants

Gene:ELF3
Variant:p.Q48L
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ELF3

NM_004433.5:p.Q48L

Associated Papers

Identification of Four New Mutations in the GLA Gene Associated with Anderson-Fabry Disease.

Anania M et al.

International Journal of Molecular Sciences, 2025

X-chromosomal inactivation patterns in women with Fabry disease.

Wagenhäuser L et al.

Molecular Genetics & Genomic Medicine, 2022

Oral Chaperone Therapy Migalastat for Treating Fabry Disease: Enzymatic Response and Serum Biomarker Changes After 1 Year.

Müntze J et al.

Clinical Pharmacology and Therapeutics, 2019

Induction, rapid fixation and retention of mutations in vegetatively propagated banana.

Jankowicz-Cieslak J et al.

Plant Biotechnology Journal, 2012

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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."