Analysis of the exome sequencing data for the following article:
Nat Genet. 2011 Mar 6;43(4):306-8.
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.
Isidor B, Lindenbaum P, Pichon O, Bézieau S, Dina C, Jacquemont S, Martin-Coignard D, Thauvin-Robinet C, Le Merrer M, Mandel JL, David A, Faivre L, Cormier-Daire V, Redon R, Le Caignec C.
using knime4bio
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