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SacsR272C missense homozygous mice develop an ataxia phenotype

by ARSACS | Mar 19, 2019 | News Archives

The research of Dr. Roxanne Larivière and her team supports that Sacs missense mutation largely leads to loss of Sacsin fucntion. SacsR272C missense homozygous mice develop an ataxia phenotype published in the Molecular Brain.

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