Varaico: Literature-Extracted Genetic Variants

Gene:COL4A1
Variant:p.K731_G732Splc
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COL4A1

NM_001845.6:p.K731_G732Splc

Associated Papers

Late-onset intracerebral hemorrhage associated with COL4A1 variants: clinical and genetic perspectives.

Zhuang X et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2026

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

Whittaker E et al.

Journal of the American Heart Association, 2022

Rare and Common Variants in COL4A1 in Chinese Patients With Intracerebral Hemorrhage.

Liu X et al.

Frontiers in Neurology, 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

Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency.

Lemmens R et al.

Human Molecular Genetics, 2013

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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."