Homozygous variant in MADD, encoding a Rab guanine nucleotide exchange factor, results in pleiotropic effects and a multisystemic disorder-Reference-Cited by-同舟云学术

Homozygous variant in MADD, encoding a Rab guanine nucleotide exchange factor, results in pleiotropic effects and a multisystemic disorder

Published:2021-03-15 Issue:6 Volume:29 Page:977-987
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Abu-Libdeh Bassam,Mor-Shaked Hagar,Atawna Amir A.,Gillis David,Halstuk Orli,Shaul-Lotan Nava,Slae Mordechai,Sultan Mutaz,Meiner Vardiella,Elpeleg Orly,Harel Tamar^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/s41431-021-00844-7.pdf

Reference42 articles.

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4. Banworth MJ, Li G. Consequences of Rab GTPase dysfunction in genetic or acquired human diseases. Small GTPases. 2018;9:158–81.

5. Langemeyer L, Fröhlich F, Ungermann C. Rab GTPase function in endosome and lysosome biogenesis. Trends Cell Biol. 2018;28:957–70.

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