Varaico: Literature-Extracted Genetic Variants

Gene:NPPB
Variant:p.R47H
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NPPB

NM_002521.3:p.R47H

Associated Papers

Germline loss-of-function variant in the E3 ubiquitin ligase TRAF2 in a young adult patient with medulloblastoma: a case report.

Vo JN et al.

Acta Neuropathologica Communications, 2024

Mutation analysis of the natriuretic peptide precursor B (NPPB) gene in patients with hypertrophic cardiomyopathy.

Chiu C et al.

Dna Sequence : the Journal of Dna Sequencing and Mapping, 2006

Association of the -381T/C promoter variation of the brain natriuretic peptide gene with low bone-mineral density and rapid postmenopausal bone loss.

Kajita M et al.

Journal of Human Genetics, 2003

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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."