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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BBS7

Variant:p.M114Splc

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BBS7

NM_176824.3:p.M114Splc

hg38:chr4:121861503 C>T

Associated Papers

Phenotypic and genotypic analysis of 11 fetal cases with Bardet-Biedl syndrome.

Yu QX et al.

Prenatal Diagnosis, 2024

38840299 (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."