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YKT6 gene variants cause a new genetic disorder finds a new study

YKT6 gene variants cause a new genetic disorder finds a new study
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Paula hertelMengqi maMythily ganapathiThomas christiansThomas christianBaylor hopkins centerRett syndrome researchInternational rett syndrome foundationUs national human genome research instituteJames lupski at baylor college of medicineBlood instituteDoris duke charitable foundationNational institute of child healthNational heart lungHuman developmentHuffington foundation

YKT6 gene variants may cause novel genetic disorder: Study

The study shows that uncommon mutations in the YKT6 gene are responsible for novel neurological illness characterised by developmental delays. | Health

United statesIndia generalPaula hertelThomas christiansMythily ganapathiHugo bellenWendy chungThomas christianMengqi maService professor at baylor college of medicineJames lupski at baylor college of medicineDan duncan neurological research instituteDistinguished service professorBaylor collegePrincipal investigatorTexas children

Research Identifies YKT6 Gene Variants as New Genetic Disorder

Research Identifies YKT6 Gene Variants as New Genetic Disorder
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United statesMythily ganapathiPaula hertelMengqi maThomas christianThomas christiansWendy chungHugo bellenHuffington foundationBlood instituteUs national human genome research instituteService professor at baylor college of medicineInternational rett syndrome foundationBaylor hopkins centerRett syndrome researchNational heart lung

Rare variants in the YKT6 gene cause new neurological disorder, study finds

A recent collaborative study has discovered rare variants in the YKT6 gene as the cause of a new neurological disorder characterized by developmental delays along with severe progressive liver disease and a potential risk for liver cancer.

United statesWendy chungMengqi maThomas christianThomas christiansHugo bellenPaula hertelMythily ganapathiDepartment of pediatrics at boston children hospitalJames lupski at baylor college of medicineDan duncan neurological research instituteService professor at baylor college of medicineDistinguished service professorBaylor collegePrincipal investigatorTexas children

YKT6 gene variants may cause novel genetic disorder: Study

YKT6 gene variants may cause novel genetic disorder: Study
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United statesPaula hertelMythily ganapathiHugo bellenThomas christianThomas christiansMengqi maWendy chungJames lupski at baylor college of medicineDan duncan neurological research instituteService professor at baylor college of medicineDistinguished service professorBaylor collegePrincipal investigatorTexas childrenBoston children