Varaico: Literature-Extracted Genetic Variants

Gene:COL4A2
Variant:p.T1384_I1390del0
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COL4A2

NM_001846.4:p.T1384_I1390del0

Associated Papers

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

Deletion in COL4A2 is associated with a three-generation variable phenotype: from fetal to adult manifestations.

Hausman-Kedem M et al.

European Journal of Human Genetics : Ejhg, 2021

Monogenic Causes of Apparently Idiopathic Perinatal Intracranial Hemorrhage.

Hausman-Kedem M et al.

Annals of Neurology, 2021

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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."