Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTSL1
Variant:p.W42R
Back to variants list

ADAMTSL1

NM_001040272.6:p.W42R

Associated Papers

Biogenesis of fibrils requires C-mannosylation of PMEL.

Kawahara R et al.

The Febs Journal, 2023

Regulation of N-glycosylation and secretion of Isthmin-1 by its C-mannosylation.

Yoshimoto S et al.

Biochimica Et Biophysica Acta. General Subjects, 2021

Whole-Exome Sequencing in a Cohort of High Myopia Patients in Northwest China.

Liu Y et al.

Frontiers in Cell and Developmental Biology, 2021

ADAMTSL1 and mandibular prognathism.

Kantaputra PN et al.

Clinical Genetics, 2019

Identification and functional analysis of an ADAMTSL1 variant associated with a complex phenotype including congenital glaucoma, craniofacial, and other systemic features in a three-generation human pedigree.

Hendee K et al.

Human Mutation, 2017

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."