Varaico: Literature-Extracted Genetic Variants

Gene:PLXNB2
Variant:p.D750N
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PLXNB2

NM_012401.4:p.D750N

Associated Papers

Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability.

Smith CEL et al.

Journal of Medical Genetics, 2024

Somatic Mutational Landscape in Mexican Patients: CDH1 Mutations and chr20q13.33 Amplifications Are Associated with Diffuse-Type Gastric Adenocarcinoma.

Cerrato-Izaguirre D et al.

International Journal of Molecular Sciences, 2022

36232418 (PubMed )
Supplement: ijms-23-11116-s001.zip › ijms-1877046-supplementary.pdf
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