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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BBS4

Variant:p.I172_M173delFs

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BBS4

NM_033028.5:p.I172_M173delFs

hg38:chr15:72724583 TAA>T

Associated Papers

Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy.

Kang HG et al.

Experimental & Molecular Medicine, 2016

27491411 (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."