Literature DB >> 24770934

A novel TSC2 mutation in a Korean patient with tuberous sclerosis complex.

Hae-Jin Hu1, Yeun-Jun Chung, Han-Wook Yoo, Young-Hoon Kim, Tae-Hoon Eom.   

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Year:  2014        PMID： 24770934     DOI： 10.1007/s10072-014-1803-8

Source DB:  PubMed          Journal:  Neurol Sci        ISSN： 1590-1874            Impact factor:   3.307


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  5 in total

1.  MutationTaster evaluates disease-causing potential of sequence alterations.

Authors:  Jana Marie Schwarz; Christian Rödelsperger; Markus Schuelke; Dominik Seelow
Journal:  Nat Methods       Date:  2010-08       Impact factor: 28.547

2.  Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm.

Authors:  Prateek Kumar; Steven Henikoff; Pauline C Ng
Journal:  Nat Protoc       Date:  2009-06-25       Impact factor: 13.491

Review 3.  The diverse clinical manifestations of tuberous sclerosis complex: a review.

Authors:  Tena Rosser; Ashok Panigrahy; William McClintock
Journal:  Semin Pediatr Neurol       Date:  2006-03       Impact factor: 1.636

4.  A method and server for predicting damaging missense mutations.

Authors:  Ivan A Adzhubei; Steffen Schmidt; Leonid Peshkin; Vasily E Ramensky; Anna Gerasimova; Peer Bork; Alexey S Kondrashov; Shamil R Sunyaev
Journal:  Nat Methods       Date:  2010-04       Impact factor: 28.547

Review 5.  Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria.

Authors:  E S Roach; M R Gomez; H Northrup
Journal:  J Child Neurol       Date:  1998-12       Impact factor: 1.987
  5 in total

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