Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.P261L
Back to variants list

ALPL

NM_000478.6:p.P261L

Associated Papers

Clinical and Genetic Characteristics of Hypophosphatasia in Chinese Adults.

Li X et al.

Genes, 2023

Exome sequencing and analysis of 454,787 UK Biobank participants.

Backman JD et al.

Nature, 2021

34662886 (PubMed )
Supplement: 41586_2021_4103_MOESM5_ESM.xlsx › SD2

Large-scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia.

Del Angel G et al.

Human Mutation, 2020

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."