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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AMER1

Variant:p.H285_P287delFs

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AMER1

NM_152424.4:p.H285_P287delFs

hg38:chrX:64192425 CTGGGCTA>C

Associated Papers

Mosaic Deletions of Known Genes Explain Skeletal Dysplasias With High and Low Bone Mass.

Muurinen M et al.

Jbmr Plus, 2022

35991531 (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."