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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CNTNAP3B

Variant:p.D549_R550delFs

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CNTNAP3B

NM_001201380.3:p.D549_R550delFs

hg38:chr9:41970073 CCTGT>C

Associated Papers

Identification of rare genetic variants in familial forms and unrelated cases of bisphosphonates-associated atypical femur fracture.

Michou L et al.

Joint Bone Spine, 2025

41135865 (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."