Varaico: Literature-Extracted Genetic Variants

Gene:B9D1
Variant:p.D177H
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B9D1

NM_015681.6:p.D177H

Associated Papers

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

Campobasso G et al.

Genes, 2025

Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.

Yuan B et al.

Genome Medicine, 2022

36180924 (PubMed )
Supplement: 13073_2022_1113_MOESM1_ESM.xlsx › Table_S6
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