Varaico: Literature-Extracted Genetic Variants

Gene:ELP4
Variant:p.E381_R382Splc
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ELP4

NM_019040.5:p.E381_R382Splc

Associated Papers

Functional categorization of gene regulatory variants that cause Mendelian conditions.

Cheng YHH et al.

Human Genetics, 2024

Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort.

Moon D et al.

Genes, 2021

35052368 (PubMed )
Supplement: genes-13-00027-s001.zip › genes-1495226-supplementary.pdf
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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."