Varaico: Literature-Extracted Genetic Variants

Gene:BNC2
Variant:p.P623H
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BNC2

NM_017637.6:p.P623H

Associated Papers

Osteomesopyknosis associated with a novel ALOX5 variant that impacts the RANKL pathway.

Fernandez-Luna JL et al.

Molecular Genetics & Genomic Medicine, 2024

38803233 (PubMed )
Supplement: MGG3-12-e2471-s001.xls › Sheet1

Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease.

Flück CE et al.

Frontiers in Genetics, 2019

Human balanced translocation and mouse gene inactivation implicate Basonuclin 2 in distal urethral development.

Bhoj EJ et al.

European Journal of Human Genetics : Ejhg, 2011

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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."