Varaico: Literature-Extracted Genetic Variants

Gene:B3GALNT2
Variant:p.E217_S218Splc
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B3GALNT2

NM_152490.5:p.E217_S218Splc

Associated Papers

Association of deep phenotyping with diagnostic yield of prenatal exome sequencing for fetal brain abnormalities.

Drexler KA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023

Diagnostic yield and psychological outcomes among women pursuing trio-exome sequencing: Do women with recurrent anomalous fetal phenotypes experience more negative psychological outcomes?

Talati AN et al.

Prenatal Diagnosis, 2023

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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."