Concepedia

TINF2, a Component of the Shelterin Telomere Protection Complex, Is Mutated in Dyskeratosis Congenita

Sharon A. Savage, Neelam Giri, Gabriela M. Baerlocher, Nick Orr, Peter M. Lansdorp, Blanche P. Alter

The American Journal of Human Genetics · 2008 · 409 citations · 29 references

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Concepts

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29

SIFT: predicting amino acid changes that affect protein function

P.C. Ng · Nucleic Acids Research · 2003 · 6.9K citations · Full text

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VISTA: computational tools for comparative genomics

Kelly A. Frazer, Lior Pachter, Alexandre Poliakov et al. · Nucleic Acids Research · 2004 · 3K citations · Full text

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Parametric and nonparametric linkage analysis: a unified multipoint approach.

Leonid Kruglyak, Mark J. Daly, Mary Pat Reeve-Daly et al. · PubMed · 1996 · 2.9K citations · Full text

, , +7

ESEfinder: a web resource to identify exonic splicing enhancers

Luca Cartegni · Nucleic Acids Research · 2003 · 1.6K citations · Full text

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A telomerase component is defective in the human disease dyskeratosis congenita

James R. Mitchell, Emily J. Wood, Kathleen Collins · Nature · 1999 · 1.2K citations

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