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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BBS5

Variant:p.K248delFs

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BBS5

NM_152384.3:p.K248delFs

hg38:chr2:169499546 AAG>A

Associated Papers

BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan.

Khan S et al.

Annals of Human Genetics, 2019

31173343 (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."