Varaico: Literature-Extracted Genetic Variants

Gene:APP
Variant:p.M45L
Back to variants list

APP

NM_000484.4:p.M45L

Associated Papers

A Dynamic Loop in Halohydrin Dehalogenase HheG Regulates Activity and Enantioselectivity in Epoxide Ring Opening.

Staar M et al.

Acs Catalysis, 2024

[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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."