Varaico: Literature-Extracted Genetic Variants

Gene:LAMA4
Variant:p.A225P
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LAMA4

NM_001105206.3:p.A225P

Associated Papers

Rare and potential pathogenic mutations of LMNA and LAMA4 associated with familial arrhythmogenic right ventricular cardiomyopathy/dysplasia with right ventricular heart failure, cerebral thromboembolism and hereditary electrocardiogram abnormality.

Chen J et al.

Orphanet Journal of Rare Diseases, 2022

Mutational Profile and Potential Molecular Therapeutic Targets of Pheochromocytoma.

Ma X et al.

Frontiers in Endocrinology, 2022

35966080 (PubMed )
Supplement: Table_1.xlsx › Table_S4

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Mazzarotto F et al.

Circulation, 2020

31983221 (PubMed )
Supplement: cir-141-387-s002.xlsx › Table_S3

Identification of 11 potentially relevant gene mutations involved in growth retardation, intellectual disability, joint contracture, and hepatopathy.

Diao H et al.

Medicine, 2018

30431579 (PubMed )
Supplement: medi-97-e13117-s002.xlsx › Sheet1
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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."