Title : De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.

Pub. Date : 2018 Nov

PMID : 30500825






2 Functional Relationships(s)
Download
Sentence
Compound Name
Protein Name
Organism
1 De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay. Guanosine Triphosphate RAS like proto-oncogene A Homo sapiens
2 Further, all de novo variants described here affect residues within the GTP/GDP-binding region of RALA; in fact, six alleles arose at only two codons, Val25 and Lys128. Guanosine Triphosphate RAS like proto-oncogene A Homo sapiens