p95/NBS1(Phospho-Ser343) Rabbit Polyclonal Antibody, 50ul Culture Media Alternatively spliced transcript variants encoding
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p95/NBS1(Phospho-Ser343) Rabbit Polyclonal Antibody, 50ul Culture Media Alternatively spliced transcript variants encodingMutations in this gene are associated with Nijmegen breakage syndrome an autosomal recessive chromosomal instability syndrome characterized by microcephaly growth retardation immunodeficiency and cancer predisposition. The encoded protein is a member of the MRE11 RAD50 double strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double strand break repair and DNA damage induced checkpoint
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