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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PROM1

Variant:p.Q359_G360Splc

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PROM1

NM_006017.3:p.Q359_G360Splc

hg38:chr4:16013340 T>A

Associated Papers

Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families.

Huang L et al.

Scientific Reports, 2017

28512305 (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."