New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing - Concepedia

Concepedia

Publication | Open Access

New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing

DOI Full Paper Access

43

Citations

26

References

2015

Year

Jorge Oliveira, Luís Negrão, Isabel Fineza, Ricardo Taipa, Manuel Melo Pires, Ana María Fortuna, Ana Gonçalves, Hugo J.C. Froufe, Conceição Egas, Rosário Santos,

Journal of Human Genetics

Mendelian DisorderGenetic DisorderWhole-exome SequencingGeneticsMolecular GeneticsDisease Gene IdentificationSystems BiologyMedicineVariant InterpretationCholine Kinase Beta

References

	Year	Citations

Page 1

Page 1