Varaico: Literature-Extracted Genetic Variants

Gene:B9D1
Variant:p.W170C
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B9D1

NM_001321214.2:p.W170C

Associated Papers

Investigating the Role of B9D1 in Meckel-Gruber Syndrome: A Case Report and Comprehensive Literature Review.

Campobasso G et al.

Genes, 2025

Joubert syndrome: genotyping a Northern European patient cohort.

Kroes HY et al.

European Journal of Human Genetics : Ejhg, 2016

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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."