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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CRTAP

Variant:p.L21_A26delFs

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CRTAP

NM_006371.5:p.L21_A26delFs

hg38:chr3:33114132 TGCGCGCTGCGCGCCGG>T

Associated Papers

Novel BMP1, CRTAP, and SERPINF1 variants causing autosomal recessive osteogenesis imperfecta.

Kuptanon C et al.

Clinical Genetics, 2022

35703132 (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."