Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.S137delFs
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ALPL

NM_000478.6:p.S137delFs

Associated Papers

The ALPL gene variant project: results of the first 100 reclassified variants.

Farman MR et al.

Jbmr Plus, 2025

Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.

Huang Q et al.

Human Genomics, 2024

39380106 (PubMed )
Supplement: 40246_2024_680_MOESM1_ESM.xlsx › Supplementary_Table_3

Clinical and genetic characteristics of hypophosphatasia in Chinese children.

Liu M et al.

Orphanet Journal of Rare Diseases, 2021

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