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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MCC

Variant:p.S28S

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MCC

NM_001085377.2:p.S28S

hg38:chr5:113488331 G>A

Associated Papers

High-throughput screening reveals novel mutations in spinal muscular atrophy patients.

Zhang R et al.

Italian Journal of Pediatrics, 2020

33148303 (PubMed )

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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."