Varaico: Literature-Extracted Genetic Variants

Gene:WRN
Variant:p.M1329fs
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WRN

NM_000553.6:p.M1329fs

Associated Papers

Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies.

Reinier F et al.

Metabolism: Clinical and Experimental, 2015

Partial lipodystrophy with severe insulin resistance and adult progeria Werner syndrome.

Donadille B et al.

Orphanet Journal of Rare Diseases, 2013

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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."