Literature citations
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
Olahova M.; Yoon W.H.; Thompson K.; Jangam S.; Fernandez L.; Davidson J.M.; Kyle J.E.; Grove M.E.; Fisk D.G.; Kohler J.N.; Holmes M.; Dries A.M.; Huang Y.; Zhao C.; Contrepois K.; Zappala Z.; Fresard L.; Waggott D.; Zink E.M.; Kim Y.M.; Heyman H.M.; Stratton K.G.; Webb-Robertson B.M.; Snyder M.; Merker J.D.; Montgomery S.B.; Fisher P.G.; Feichtinger R.G.; Mayr J.A.; Hall J.; Barbosa I.A.; Simpson M.A.; Deshpande C.; Waters K.M.; Koeller D.M.; Metz T.O.; Morris A.A.; Schelley S.; Cowan T.; Friederich M.W.; McFarland R.; Van Hove J.L.K.; Enns G.M.; Yamamoto S.; Ashley E.A.; Wangler M.F.; Taylor R.W.; Bellen H.J.; Bernstein J.A.; Wheeler M.T.;
Am. J. Hum. Genet. 102:494-504(2018)
Cited for: FUNCTION; INVOLVEMENT IN MC5DN5; VARIANTS MC5DN5 LEU-82 AND GLY-106; CHARACTERIZATION OF VARIANTS MC5DN5 LEU-82 AND GLY-106;
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Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.