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Gene Review

MED12L  -  mediator complex subunit 12-like

Homo sapiens

Synonyms: KIAA1635, Mediator complex subunit 12-like protein, Mediator of RNA polymerase II transcription subunit 12-like protein, NOPAR, PRO0314, ...
 
 
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High impact information on MED12L

  • Two novel genes-NOPAR and UCRP-and one previously identified gene-H963-were excluded as USH3, on the basis of mutational analysis [1].
  • Nonparametric linkage and association analyses were performed with the Nonparametric Analysis of Lineage and Association (NOPAR) program, and parametric analyses were performed with the Complex Inheritance with Diathesis and Severity (COMDS) program on an ordered polychotomy of ranked scores [2].

References

  1. Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. Joensuu, T., Hämäläinen, R., Yuan, B., Johnson, C., Tegelberg, S., Gasparini, P., Zelante, L., Pirvola, U., Pakarinen, L., Lehesjoki, A.E., de la Chapelle, A., Sankila, E.M. Am. J. Hum. Genet. (2001) [Pubmed]
  2. Allelic association of gene markers on chromosomes 5q and 11q with atopy and bronchial hyperresponsiveness. Doull, I.J., Lawrence, S., Watson, M., Begishvili, T., Beasley, R.W., Lampe, F., Holgate, T., Morton, N.E. Am. J. Respir. Crit. Care Med. (1996) [Pubmed]
 
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