Varaico: Literature-Extracted Genetic Variants

Gene:SMN1
Variant:p.L264S
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SMN1

NM_000344.4:p.L264S

Associated Papers

Autosomal dominant polycystic kidney disease unlinked to the PKD1 and PKD2 loci presenting as familial cerebral aneurysm.

McConnell RS et al.

Journal of Medical Genetics, 2001

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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."