Varaico: Literature-Extracted Genetic Variants

Gene:HPS3
Variant:p.T736_Q737delFs
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HPS3

NM_032383.5:p.T736_Q737delFs

Associated Papers

Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.

Huang Q et al.

Human Genomics, 2024

39380106 (PubMed )
Supplement: 40246_2024_680_MOESM1_ESM.xlsx › Supplementary_Table_3

Hermansky-Pudlak Syndrome: Spectrum in Oman.

Nazir HF et al.

Journal of Pediatric Hematology/oncology, 2023

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

Hermansky-Pudlak syndrome: Mutation update.

Huizing M et al.

Human Mutation, 2020

NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients.

Wei A et al.

Pigment Cell & Melanoma Research, 2016

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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."