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GenomicsWhole Exome Sequencing Identifies TTC7A Mutations for Combined Immunodeficiency with Intestinal Atresia

Combined Immunodeficiency with Multiple Intestinal Atresias (CID-MIA) is a rare genetic disorder with the cause previously unknown. Symptoms of CID-MIA include atresias in the small and/or large intestine, as well as immunodeficiency. In this study, we sequenced the whole exome of 5 unrelated CID...

phs000641.v1.p1 | EGA
ProteomicsHs_4plex_protein
Hs_4plex_protein ES_iPS
ORGANISM(S): Homo Sapiens (human) 
2011-12-31 | PAe003763 | PeptideAtlas
ProteomicsHs_8plex_protein_biorep1
Hs_8plex_protein_biorep1 ES_iPS
ORGANISM(S): Homo Sapiens (human) 
2011-12-31 | PAe003758 | PeptideAtlas
ProteomicsHs_8plex_phospho_biorep1_ETD
Hs_8plex_phospho_biorep1 ETD ES_iPS
ORGANISM(S): Homo Sapiens (human) 
2011-12-31 | PAe005237 | PeptideAtlas
ProteomicsHs_8plex_phospho_biorep2_ETD
Hs_8plex_phospho_biorep2 ETD ES_iPS
ORGANISM(S): Homo Sapiens (human) 
2011-12-31 | PAe005281 | PeptideAtlas
ProteomicsHs_4plex_phospho
Hs_4plex_phospho ES_iPS
ORGANISM(S): Homo Sapiens (human) 
2011-12-31 | PAe003756 | PeptideAtlas
ProteomicsHs_8plex_phospho_biorep2
Hs_8plex_phospho_biorep2 ES_iPS
ORGANISM(S): Homo Sapiens (human) 
2011-12-31 | PAe003753 | PeptideAtlas
ProteomicsHs_4plex_phospho_ETD
Hs_4plex_phospho ES_iPS ETD
ORGANISM(S): Homo Sapiens (human) 
2011-12-31 | PAe004089 | PeptideAtlas
ProteomicsHs_8plex_phospho_biorep1
Hs_8plex_phospho_biorep1 ES_iPS
ORGANISM(S): Homo Sapiens (human) 
2011-12-31 | PAe003798 | PeptideAtlas
ProteomicsHs_8plex_phospho_biorep3
Hs_8plex_phospho_biorep3 ES_iPS
ORGANISM(S): Homo Sapiens (human) 
2011-12-31 | PAe003796 | PeptideAtlas
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