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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BGN

Variant:p.Y117_A118Splc

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BGN

NM_001711.6:p.Y117_A118Splc

hg38:chrX:153505351 G>A

Associated Papers

Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome.

Meester JAN et al.

Npj Genomic Medicine, 2024

38531898 (PubMed )

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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."