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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BBS4

Variant:p.A26fs

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BBS4

NM_033028.5:p.A26fs

hg38:chr15:72709700 CT>N

Associated Papers

Middle Eastern Genetic Variation Improves Clinical Annotation of the Human Genome.

Ramaswamy S et al.

Journal of Personalized Medicine, 2022

35330423 (PubMed )

Supplement: jpm-12-00423-s001.zip › Supplementary_Table.xlsx › Supp_Table3

Characterizing the morbid genome of ciliopathies.

Shaheen R et al.

Genome Biology, 2016

27894351 (PubMed )

Supplement: 13059_2016_1099_MOESM2_ESM.xlsx › Sheet1

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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."