Varaico: Literature-Extracted Genetic Variants

Gene:BMP6
Variant:p.E112Q
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BMP6

NM_001718.6:p.E112Q

Associated Papers

Hereditary haemochromatosis: Prevalence and characterization of the disease in a tertiary hospital in Aragon, Spain.

Abadía Molina C et al.

Medicina Clinica, 2024

Evaluation of a bone morphogenetic protein 6 variant as a cause of iron loading.

McDonald CJ et al.

Human Genomics, 2018

Identification of new BMP6 pro-peptide mutations in patients with iron overload.

Piubelli C et al.

American Journal of Hematology, 2017

A probabilistic model to predict clinical phenotypic traits from genome sequencing.

Chen YC et al.

Plos Computational Biology, 2014

25188385 (PubMed )
Supplement: pcbi.1003825.s014.xlsx › TableS12

Whole-exome sequencing identifies Y1495X of SCN5A to be associated with familial conduction disease and sudden death.

Tan ZP et al.

Scientific Reports, 2014

25010007 (PubMed )
Supplement: srep05616-s2.xls › dominant_result_new
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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."