Varaico: Literature-Extracted Genetic Variants

Gene:ELN
Variant:p.P147R
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ELN

NM_000501.4:p.P147R

Associated Papers

Phenotypic findings associated with variation in elastin.

Justice A et al.

Hgg Advances, 2025

39604264 (PubMed )
Supplement: mmc1.pdf

Phenotypic Findings Associated with Variation in Elastin.

Justice A et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations.

Chassaing N et al.

Journal of Medical Genetics, 2005

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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."