Varaico: Literature-Extracted Genetic Variants

Gene:CLU
Variant:p.I56T
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CLU

NM_001831.4:p.I56T

Associated Papers

The Significance of the Location of Mutations for the Native-State Dynamics of Human Lysozyme.

Ahn M et al.

Biophysical Journal, 2016

27926837 (PubMed )
Supplement: mmc2.pdf

A non-natural variant of human lysozyme (I59T) mimics the in vitro behaviour of the I56T variant that is responsible for a form of familial amyloidosis.

Hagan CL et al.

Protein Engineering, Design & Selection : Peds, 2010

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