A novel homozygousPAM16mutation in a patient with a milder phenotype and longer survival

Title
A novel homozygousPAM16mutation in a patient with a milder phenotype and longer survival
Authors
Keywords
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Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 170, Issue 9, Pages 2436-2439
Publisher
Wiley
Online
2016-06-29
DOI
10.1002/ajmg.a.37823

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