Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.Y236C
Back to variants list

ALPL

NM_000478.6:p.Y236C

Associated Papers

Cost-effective and flexible preimplantation genetic testing (PGT) by nanopore adaptive sampling.

Zhang Z et al.

Journal of Nanobiotechnology, 2025

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

Farman MR et al.

Jbmr Plus, 2025

Childhood Hypophosphatasia Associated with a Novel Biallelic ALPL Variant at the TNSALP Dimer Interface.

Martins L et al.

International Journal of Molecular Sciences, 2022

Case Report: Variations in the ALPL Gene in Chinese Patients With Hypophosphatasia.

Zhang Q et al.

Frontiers in Genetics, 2021

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."