• Mutation; HGNC; HGNC:4135; GALT; Simple; p.Ser135Leu (c.404C>T); ClinVar=VCV000003618; Zygosity=Heterozygous (from autologous cell line GM02796).
  
• Mutation; HGNC; HGNC:4135; GALT; Simple; p.Phe171Ser (c.512T>C); ClinVar=VCV000003616; Zygosity=Heterozygous (from autologous cell line GM02796).
  

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CLPUB00447
Mulivor R.A., Suchy S.F.
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PubMed=11416159; DOI=10.1073/pnas.121616198; PMCID=PMC35459
Masters J.R.W., Thomson J.A., Daly-Burns B., Reid Y.A., Dirks W.G., Packer P., Toji L.H., Ohno T., Tanabe H., Arlett C.F., Kelland L.R., Harrison M., Virmani A.K., Ward T.H., Ayres K.L., Debenham P.G.
Short tandem repeat profiling provides an international reference standard for human cell lines.
Proc. Natl. Acad. Sci. U.S.A. 98:8012-8017(2001)

PubMed=25877200; DOI=10.1038/nature14397
Yu M., Selvaraj S.K., Liang-Chu M.M.Y., Aghajani S., Busse M., Yuan J., Lee G., Peale F.V., Klijn C., Bourgon R., Kaminker J.S., Neve R.M.
A resource for cell line authentication, annotation and quality control.
Nature 520:307-311(2015)