Varaico: Literature-Extracted Genetic Variants

Gene:BBS2
Variant:p.M645T
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BBS2

NM_031885.5:p.M645T

Associated Papers

Different Clinical Courses of Nephronophthisis in Dizygotic Twins.

Oki Y et al.

Internal Medicine (tokyo, Japan), 2023

Diagnostic use of computational retrotransposon detection: Successful definition of pathogenetic mechanism in a ciliopathy phenotype.

Takenouchi T et al.

American Journal of Medical Genetics. Part A, 2017

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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."