Varaico: Literature-Extracted Genetic Variants

Gene:TRPM4
Variant:p.K487_L498del0
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TRPM4

NM_017636.4:p.K487_L498del0

Associated Papers

Early-onset hereditary isolated non-neurogenic orthostatic hypotension in a Swedish family.

Fagius J et al.

Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society, 2023

37460866 (PubMed )
Supplement: 10286_2023_963_MOESM2_ESM.xlsx › Variants

Re-evaluation of single nucleotide variants and identification of structural variants in a cohort of 45 sudden unexplained death cases.

Neubauer J et al.

International Journal of Legal Medicine, 2021

Human primary liver cancer-derived organoid cultures for disease modeling and drug screening.

Broutier L et al.

Nature Medicine, 2017

29131160 (PubMed )
Supplement: NIHMS74480-supplement-Supplementary_Dataset_4.xlsx › S6_CHC-1_coding_Indels

Variants of Transient Receptor Potential Melastatin Member 4 in Childhood Atrioventricular Block.

Syam N et al.

Journal of the American Heart Association, 2016

Molecular genetics and functional anomalies in a series of 248 Brugada cases with 11 mutations in the TRPM4 channel.

Liu H et al.

Plos One, 2013

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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."