Literature for peptidase T02.004: taspase-1

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2019
1. Balkin,D.M., Poranki,M., Forester,C.M., Dorsey,M.J., Slavotinek,A. and Pomerantz,J.H.
   TASP1 mutation in a female with craniofacial anomalies, anterior segment dysgenesis, congenital immunodeficiency and macrocytic anemia
   Mol Genet Genomic Mede818-e818. PubMed  Europe PubMed DOI  M
2. Suleiman,J., Riedhammer,K.M., Jicinsky,T., Mundt,M., Werner,L., Gusic,M., Burgemeister,A.L., Alsaif,H.S., Abdulrahim,M., Moghrabi,N.N., Nicolas-Jilwan,M., AlSayed,M., Bi,W., Sampath,S., Alkuraya,F.S. and El-Hattab,A.W.
   Homozygous loss-of-function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies
   Hum Mutat40, 1985-1992. PubMed  Europe PubMed DOI  M
2018
3. Suleiman,J., Mundt,M., Sampath,S. and El-Hattab,A.W.
   TASP1 is deleted in an infant with developmental delay, microcephaly, distinctive facial features, and multiple congenital anomalies
   Clin Genet94, 170-173. PubMed  Europe PubMed DOI  M