Novel MNX1 mutations and clinical analysis of familial and sporadic Currarino cases
Tài liệu tham khảo
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HGVS (http://www.hgvs.org/mutnomen).
dbSNP build 133 (http://www.ncbi.nlm.nih.gov/projects/SNP/).
1000 Genome project (http://browser.1000genomes.org/index.html).
EVS (http://evs.gs.washington.edu/EVS/).
HGMD database (http://www.hgmd.cf.ac.uk).
PolyPhen2 (polymorphism phenotyping v2. http://genetics.bwh.harvard.edu/pph2/index.shtml).
SIFT (sorting intolerant from tolerant; http://sift.bii.a-star.edu.sg/).
Mutation taster (http://www.mutationtaster.org/).
Human splicing finder v2.4.1 (http://www.umd.be/HSF/).
Uniprot (http://www.uniprot.org/).