Varaico: Literature-Extracted Genetic Variants

Gene:CRYBB3
Variant:p.E130K
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CRYBB3

NM_004076.5:p.E130K

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

Exome Sequencing in Individuals with Isolated Biliary Atresia.

Rajagopalan R et al.

Scientific Reports, 2020

32066793 (PubMed )
Supplement: 41598_2020_59379_MOESM2_ESM.xlsx › Supp.Table_2_all_variants
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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."