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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PDLIM3

Variant:p.A40insFs

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PDLIM3

NM_014476.6:p.A40insFs

hg38:chr4:185525146 G>GC

Associated Papers

New insights into the landscape of ALPL gene variants in patients with hypophosphatasia from the Global HPP Registry.

Kishnani PS et al.

American Journal of Medical Genetics. Part A, 2024

38884565 (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."