Varaico: Literature-Extracted Genetic Variants

Gene:COL4A1
Variant:p.R396*
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COL4A1

NM_001845.6:p.R396*

Associated Papers

Diagnostic yield of exome sequencing in prenatal agenesis of corpus callosum: systematic review and meta-analysis.

Mustafa HJ et al.

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2024

Exome sequencing as first-tier test for fetuses with severe central nervous system structural anomalies.

Yaron Y et al.

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2022

Whole-exome sequencing identifies a recurrent NAB2-STAT6 fusion in solitary fibrous tumors.

Chmielecki J et al.

Nature Genetics, 2013

23313954 (PubMed )
Supplement: NIHMS474988-supplement-1.pdf
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