Varaico: Literature-Extracted Genetic Variants

Gene:AP3B1
Variant:p.I597fs
Back to variants list

AP3B1

NM_003664.5:p.I597fs

Associated Papers

Hermansky-Pudlak syndrome type 2: A rare cause of severe periodontitis in adolescents-A case study.

Chen J et al.

Frontiers in Pediatrics, 2022

Hermansky-Pudlak syndrome: Mutation update.

Huizing M et al.

Human Mutation, 2020

Use of Targeted High-Throughput Sequencing for Genetic Classification of Patients with Bleeding Diathesis and Suspected Platelet Disorder.

Andres O et al.

Th Open : Companion Journal to Thrombosis and Haemostasis, 2018

Hermansky-Pudlak syndrome type 2: Aberrant pre-mRNA splicing and mislocalization of granule proteins in neutrophils.

de Boer M 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."