Varaico: Literature-Extracted Genetic Variants

Gene:BICD2
Variant:p.K734E
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BICD2

NM_001003800.2:p.K734E

Associated Papers

Approaches to Evaluate Whole Exome Sequencing Data That Incorporate Genetic Intolerance Scores for Congenital Anomalies, Including Intronic Regions Adjacent to Exons.

Taniguchi K et al.

Molecular Genetics & Genomic Medicine, 2025

40078074 (PubMed )
Supplement: MGG3-13-e70092-s002.xlsx › Supplementary_Table_1

Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia.

Masuda L et al.

Human Genome Variation, 2024

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