Varaico: Literature-Extracted Genetic Variants

Gene:COL4A1
Variant:p.G861S
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COL4A1

NM_001845.6:p.G861S

Associated Papers

COL4A1 gene mutations and perinatal intracranial hemorrhage in neonates: case reports and literature review.

Bersani I et al.

Frontiers in Pediatrics, 2024

Systematic Review of Cerebral Phenotypes Associated With Monogenic Cerebral Small-Vessel Disease.

Whittaker E et al.

Journal of the American Heart Association, 2022

Beyond the Brain: Systematic Review of Extracerebral Phenotypes Associated With Monogenic Cerebral Small Vessel Disease.

Rannikmäe K et al.

Stroke, 2020

32842921 (PubMed )
Supplement: str_stroke-2020-029517_supp1.pdf

The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.

Meuwissen ME et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015

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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."