Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.S367_S368del1
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ALPL

NM_000478.6:p.S367_S368del1

Associated Papers

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

Farman MR et al.

Jbmr Plus, 2025

Differential Pregnancy Decisions in a Woman With a Recurrent Prenatal Diagnosis of Hypophosphatasia.

Oguro T et al.

Cureus, 2025

Clinical and Genetic Characteristics of Hypophosphatasia in Chinese Adults.

Li X et al.

Genes, 2023

Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population.

Glotov OS et al.

International Journal of Molecular Sciences, 2022

Clinical and genetic characteristics of hypophosphatasia in Chinese children.

Liu M et al.

Orphanet Journal of Rare Diseases, 2021

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

[Infantile hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase gene].

Zhao Z et al.

Zhonghua Nei Ke Za Zhi, 2013

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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."