Varaico: Literature-Extracted Genetic Variants

Gene:AP3B1
Variant:p.K365_G366Splc
Back to variants list

AP3B1

NM_003664.5:p.K365_G366Splc

Associated Papers

Molecular genetics of idiopathic pulmonary fibrosis.

Mustafin RN

Vavilovskii Zhurnal Genetiki I Selektsii, 2022

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

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

de Boer M et al.

Human Mutation, 2017

Interstitial lung disease and pulmonary fibrosis in Hermansky-Pudlak syndrome type 2, an adaptor protein-3 complex disease.

Gochuico BR et al.

Molecular Medicine (cambridge, Mass.), 2012

Novel mutation causing Hermansky-Pudlak Syndrome Type 2.

Chiang PW et al.

Pediatric Blood & Cancer, 2010

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."