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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BBS7

Variant:p.I249N

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BBS7

NM_176824.3:p.I249N

hg38:chr4:121853059 A>T

Associated Papers

Recurrence of a BBS1 variant in Bardet-Biedl patients from Prince Edward Island.

Alghaith FA et al.

Clinical Genetics, 2023

37612261 (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."