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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ALPL

Variant:p.S110N

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ALPL

NM_000478.6:p.S110N

hg38:chr1:21563141 G>A

Associated Papers

Novel Loss-of-Function Mutations in NPR2 Cause Acromesomelic Dysplasia, Maroteaux Type.

Wu J et al.

Frontiers in Genetics, 2022

35368703 (PubMed )

Supplement: DataSheet1.zip › 823861_SupMaterial › Supplementary_Tables_and_Figures-0226.DOCX

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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."