Varaico: Literature-Extracted Genetic Variants

Gene:HPS1
Variant:p.R27delFs
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HPS1

NM_000195.5:p.R27delFs

Associated Papers

Hermansky-Pudlak syndrome: Mutation update.

Huizing M et al.

Human Mutation, 2020

Extracorporeal Membrane Oxygenation Bridge to Lung Transplantation in a Patient with Hermansky-Pudlak Syndrome and Progressive Pulmonary Fibrosis.

Sim W et al.

Acute and Critical Care, 2019

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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."