Varaico: Literature-Extracted Genetic Variants

Gene:HPS4
Variant:p.L443V
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HPS4

NM_022081.6:p.L443V

Associated Papers

A novel mutation causes Hermansky-Pudlak syndrome type 4 with pulmonary fibrosis in 2 siblings from China.

Wu W et al.

Medicine, 2019

Association of the Hermansky-Pudlak syndrome type 4 (HPS4) gene variants with cognitive function in patients with schizophrenia and healthy subjects.

Kuratomi G et al.

Bmc Psychiatry, 2013

An association study of the Hermansky-Pudlak syndrome type 4 gene in schizophrenic patients.

Saito A et al.

Psychiatric Genetics, 2013

Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.

Hutton SM et al.

The Journal of Investigative Dermatology, 2008

A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients.

Hutton SM et al.

Investigative Ophthalmology & Visual Science, 2008

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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."