Varaico: Literature-Extracted Genetic Variants

Gene:HPS6
Variant:p.S152*
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HPS6

NM_024747.6:p.S152*

Associated Papers

The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.

Green DJ et al.

Nature Communications, 2024

39349469 (PubMed )
Supplement: 41467_2024_52763_MOESM4_ESM.xlsx › supp_data_1

Ophthalmologic Phenotype-Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center.

Seguy PH et al.

Investigative Ophthalmology & Visual Science, 2023

37707835 (PubMed )
Supplement: iovs-64-12-26_s001.xlsx › Feuil2

The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.

Michaud V et al.

Nature Communications, 2022

35803923 (PubMed )
Supplement: 41467_2022_31392_MOESM4_ESM.xlsx › Supplementary-Table_1

Hermansky-Pudlak syndrome: Mutation update.

Huizing M et al.

Human Mutation, 2020

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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."