Varaico: Literature-Extracted Genetic Variants

Gene:ALPP
Variant:p.P419delFs
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ALPP

NM_001632.5:p.P419delFs

Associated Papers

Whole Exome Sequencing Identifies Frequent Somatic Mutations in Cell-Cell Adhesion Genes in Chinese Patients with Lung Squamous Cell Carcinoma.

Li C et al.

Scientific Reports, 2015

26503331 (PubMed )
Supplement: srep14237-s3.xls › Sheet1

Disulfide bonds are critical for tissue-nonspecific alkaline phosphatase function revealed by analysis of mutant proteins bearing a C(201)-Y or C(489)-S substitution associated with severe hypophosphatasia.

Satou Y et al.

Biochimica Et Biophysica Acta, 2012

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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."