- ... weight, length, & head circumference Eval of nutritional status & safety of oral intake ... isoleucine, leucine, valine, threonine, & methionine) collected 2 hrs after last typical meal ...
- ... Databases HGMD ClinVar PARK6 PINK1 1p36 .12 Serine/threonine-protein kinase PINK1, mitochondrial Parkinson's disease Mutation ... known pathogenic variants are localized within the serine/threonine kinase domain of PINK1 , as expected [ Valente et ...
- ... Specific Databases HGMD ClinVar STK11 19p13 .3 Serine/threonine-protein kinase STK11 STK11 database STK11 STK11 Data ... window 175200 PEUTZ-JEGHERS SYNDROME; PJS 602216 SERINE/THREONINE PROTEIN KINASE 11; STK11 Molecular Pathogenesis STK11 encodes ...
- ... Locus-Specific Databases HGMD ClinVar BRAF 7q34 Serine/threonine-protein kinase B-raf BRAF database NSEuroNet database - ... PTPN11 RAF1 3p25 .2 RAF proto-oncogene serine/threonine-protein kinase NSEuroNet database - RAF1 RAF1 RAF1 RASA2 ...
- ... that removes phosphate groups from tyrosine, serine, and threonine. PTEN pathogenic variants are diverse and can present ... Markie D, Tomlinson I, et al.: A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature ...
- ... Locus Protein HGMD ClinVar PPP2R1A 19q13 .41 Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A ... type determines substrate specificity, that is, which serine/threonine phosphate residues are targeted. Protein phosphorylation and dephosphorylation ...
- ... that removes phosphate groups from tyrosine, serine, and threonine. PTEN pathogenic variants are diverse and can present ... Markie D, Tomlinson I, et al.: A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature ...
- ... HGMD ClinVar AKT3 1q43-q44 RAC-gamma serine/threonine-protein kinase AKT3 AKT3 CCND2 12p13 .32 G1/ ... POLYDACTYLY-HYDROCEPHALUS SYNDROME 1; MPPH1 611223 AKT SERINE/THREONINE KINASE 3; AKT3 615937 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS ...
- ... synonym >HHT2</synonym><synonym >ORW2</synonym><synonym >Serine/threonine-protein kinase Receptor R3 Precursor</synonym><synonym >SKR3</ ...
- ... Locus-Specific Databases HGMD ClinVar BRAF 7q34 Serine/threonine-protein kinase B-raf BRAF database NSEuroNet database - ... SYNDROME 1; CFC1 164757 B-RAF PROTOONCOGENE, SERINE/THREONINE KINASE; BRAF 176872 MITOGEN-ACTIVATED PROTEIN KINASE KINASE ...
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