Varaico: Literature-Extracted Genetic Variants

Gene:COL4A1
Variant:p.G501C
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COL4A1

NM_001845.6:p.G501C

Associated Papers

High frequency of HTRA1 AND ABCC6 mutations in Japanese patients with adult-onset cerebral small vessel disease.

Uemura M et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2023

36261288 (PubMed )
Supplement: jnnp-2022-329917supp001.pdf
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