SnpEff currently uses "inframe_insertion" meaning "conservative_inframe_insertion": conservative_inframe_insertion : http://www.sequenceontology.org/miso/current_svn/term/SO:0001823 disruptive_inframe_insertion: http://www.sequenceontolo...
decreased expression of Cav1.2 in the forebrain has been shown to cause anxiety-like behavior in mice, suggesting that changes in expression or function of this protein may contribute to neuropsychiatric anxiety [12]. Timothy Syndrome is a rare multi-organ disease caused by ade novomissense mutatio...
Previously, we identified nine de novo mutations in 2,446 probands from the SSC; this included eight putative loss-of-function mutations and one in-frame amino-acid deletion (Table 1). To expand the patient collection and determine the specificity of the phenotype for autism, we targeted a ...
Protein loading was normalized with the myosin band in the post-blotted gel. 4.4. Deletion/Duplication Screening (gDNA and cDNA) Screening for deletions and duplications in the DMD gene was carried out by MLPA using two sets of probe mixes (P034 and P035, MRC-Holland, Amsterdam, the ...