Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.Q347*
Back to variants list

ALPL

NM_000478.6:p.Q347*

Associated Papers

Six-year clinical outcomes of enzyme replacement therapy for perinatal lethal and infantile hypophosphatasia in Korea: Two case reports.

Kim I et al.

Medicine, 2023

First Korean Case of Infantile Hypophosphatasia with Novel Mutation in ALPL and Literature Review.

Park EG et al.

Annals of Clinical and Laboratory Science, 2016

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."