Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.E138Q
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LMNA

NM_170707.4:p.E138Q

Associated Papers

Genetically Confirmed Familial Case of Nonsyndromic Cardiac Progeria Caused by the LMNA p.Asp300Asn Variant with Presumed Gonadal Mosaicism: Phenotypic Comparison with Previously Reported Patients.

Nuzhnaya E et al.

Genes, 2025

Early-onset multivalvular disease caused by a missense variant in lamin A/C.

Janin A et al.

Hgg Advances, 2025

Atypical Progeria Primarily Manifesting as Premature Cardiac Valvular Disease Segregates with LMNA-Gene Variants.

Wu HW et al.

Journal of Cardiovascular Development and Disease, 2024

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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."