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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CAVIN1

Variant:p.S104N

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CAVIN1

NM_012232.6:p.S104N

hg38:chr17:42422787 C>T

Associated Papers

A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients.

Waddell LB et al.

Neuromuscular Disorders : Nmd, 2011

21683594 (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."