Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.G120R
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ALPL

NM_000478.6:p.G120R

Associated Papers

Lysine acetylation regulates the interaction between proteins and membranes.

Okada AK et al.

Nature Communications, 2021

34753925 (PubMed )
Supplement: 41467_2021_26657_MOESM4_ESM.zip › Bioinformatics.zip › Datasets › Unused › PTMVAR_download.xlsx › Humsavar_overlap_2PSP_PTM5-14-1

Clinical and molecular findings in children and young adults with persistent low alkaline phosphatase concentrations.

Araci MB et al.

Annals of Clinical Biochemistry, 2021

Hypophosphatasia in Japan: ALPL Mutation Analysis in 98 Unrelated Patients.

Michigami T et al.

Calcified Tissue International, 2020

Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.

Tenorio J et al.

American Journal of Medical Genetics. Part A, 2017

A homozygous intronic branch-point deletion in the ALPL gene causes infantile hypophosphatasia.

Mentrup B et al.

Bone, 2017

Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults.

Riancho-Zarrabeitia L et al.

European Journal of Internal Medicine, 2016

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

Zhao Z et al.

Zhonghua Nei Ke Za Zhi, 2013

Functional evaluation of mutations in the tissue-nonspecific alkaline phosphatase gene.

Zhu T et al.

The Chinese Journal of Dental Research, 2012

Severe hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene.

Stoll C et al.

Genetic Counseling (geneva, Switzerland), 2002

Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene.

Mornet E

Human Mutation, 2000

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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."