Correlation of phenotype/genotype in a cohort of 23 xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH mutations.

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Published in Hum Mutat on January 01, 2014

Authors

Kristina Opletalova, Agnès Bourillon, Wei Yang, Caroline Pouvelle, Jacques Armier, Emmanuelle Despras, Martin Ludovic, Christine Mateus, Caroline Robert, Patricia Kannouche, Nadem Soufir, Alain Sarasin

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