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Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-.

Cover of Chromosomal Variation in Man

Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].

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01p342

1p34.2
  • Kumar R A, Sudi J, Babatz T D, Brune C W, Oswald D, Yen M, Nowak N J, Cook E H, Christian S L, Dobyns W B.: A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism. J. Med. Genet. 47: 81-90, 2010. [PMC free article: PMC2921284] [PubMed: 19546099]
    Patient LP99-105:
    46,XY,del(1)(p34.2p34.3)dn
    Patient was 3 years old with microcephaly.
    3.3 Mb deletion.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 1p-
    Index Terms: Autism, RIMS3,Synaptic vesicle gene
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105723

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