Varaico: Literature-Extracted Genetic Variants

Gene:B3GALNT2
Variant:p.M1V
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B3GALNT2

NM_152490.5:p.M1V

Associated Papers

Compound heterozygous B3GALNT2 mutations in a fetus with encephalocele: A case report.

Ling D et al.

Clinical Case Reports, 2024

Diagnostic yield with exome sequencing in prenatal severe bilateral ventriculomegaly: a systematic review and meta-analysis.

Mustafa HJ et al.

American Journal of Obstetrics & Gynecology Mfm, 2023

Prenatal diagnosis of Walker-Warburg syndrome due to compound mutations in the B3GALNT2 gene.

Wang P et al.

The Journal of Gene Medicine, 2022

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