Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HPS1

Variant:p.L467_R476del10

Back to variants list

HPS1

NM_000195.5:p.L467_R476del10

hg38:chr10:98423855 TGCCGCTTCAGCTTCCCACATGCCTGGAGCA>T

Associated Papers

Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent.

Carmona-Rivera C et al.

The Journal of Investigative Dermatology, 2011

21833017 (PubMed )

Select a paper to view details

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."