Varaico: Literature-Extracted Genetic Variants

Gene:LAMP2
Variant:p.K289fs
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LAMP2

NM_002294.3:p.K289fs

Associated Papers

Clinical Relevance of the Systematic Analysis of Copy Number Variants in the Genetic Study of Cardiomyopathies.

de Uña-Iglesias D et al.

Genes, 2024

38927710 (PubMed )
Supplement: genes-15-00774-s001.zip › genes-3035211-supplementary.pdf

Early onset cardiomyopathy in females with Danon disease.

Hedberg Oldfors C et al.

Neuromuscular Disorders : Nmd, 2015

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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."