ALISON BERTUCH to Mutation, Missense
This is a "connection" page, showing publications ALISON BERTUCH has written about Mutation, Missense.
Connection Strength
0.874
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From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants. Hum Mutat. 2019 12; 40(12):2414-2429.
Score: 0.467
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Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome. BMC Med Genet. 2014 Jun 04; 15:64.
Score: 0.324
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Ku must load directly onto the chromosome end in order to mediate its telomeric functions. PLoS Genet. 2011 Aug; 7(8):e1002233.
Score: 0.067
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Clinical, histopathologic, and genetic features of pediatric primary myelofibrosis--an entity different from adults. Am J Hematol. 2012 May; 87(5):461-4.
Score: 0.017