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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BBS5

Variant:p.I31T

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BBS5

NM_152384.3:p.I31T

hg38:chr2:169482283 T>C

Associated Papers

Diagnostic exome sequencing in 266 Dutch patients with visual impairment.

Haer-Wigman L et al.

European Journal of Human Genetics : Ejhg, 2017

28224992 (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."