Varaico: Literature-Extracted Genetic Variants

Gene:MATN1
Variant:p.Q467*
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MATN1

NM_002379.3:p.Q467*

Associated Papers

Rare Presentation of Homozygous SLC20A2 Mutations Causing Intra-Arterial Cerebral Vasculopathy and Stroke in Infancy: Case Report and Review of the Literature.

Baker L et al.

Case Reports in Genetics, 2025

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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."