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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HPS5

Variant:p.H646_L647del2

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HPS5

NM_181507.2:p.H646_L647del2

hg38:chr11:18291940 CTAAATG>C

Associated Papers

Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases.

Surl D et al.

Jama Network Open, 2024

38819824 (PubMed )

Supplement: jamanetwopen-e2414198-s001.pdf

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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."