Varaico: Literature-Extracted Genetic Variants

Gene:HPS4
Variant:p.L199Splc
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HPS4

NM_022081.6:p.L199Splc

Associated Papers

Report of Hermansky-Pudlak Syndrome in Two Families with Novel Variants in HPS3 and HPS4 Genes.

Zaman Q et al.

Genes, 2023

36672886 (PubMed )
Supplement: genes-14-00145-s001.zip › genes-2104317-supplementary.pdf

Rapid genetic diagnosis of heritable platelet function disorders with next-generation sequencing: proof-of-principle with Hermansky-Pudlak syndrome.

Jones ML et al.

Journal of Thrombosis and Haemostasis : Jth, 2012

A novel homozygous HPS4 mutation in Hermansky-Pudlak syndrome: case report and literature review.

Liu Q et al.

Therapeutic Advances in Respiratory Disease, 0

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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."