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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HPS4

Variant:p.A211fs

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HPS4

NM_022081.6:p.A211fs

hg38:chr22:26468587 G>GN

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

31415434 (PubMed )

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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."