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Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline.
Proc Natl Acad Sci U S A. 2013 Dec 10;110(50):20152-7. doi: 10.1073/pnas.1311381110. Epub 2013 Nov 20.
Proc Natl Acad Sci U S A. 2013.
PMID: 24259709
Free PMC article.
Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis.
Burkitt Wright EM, Sach E, Sharif S, Quarrell O, Carroll T, Whitehouse RW, Upadhyaya M, Huson SM, Evans DG.
Burkitt Wright EM, et al.
J Med Genet. 2013 Sep;50(9):606-13. doi: 10.1136/jmedgenet-2013-101648. Epub 2013 Jun 28.
J Med Genet. 2013.
PMID: 23812910
Free PMC article.
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