DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients - Concepedia

Concepedia

Publication | Open Access

DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients

DOI Full Paper Access

25

Citations

20

References

2019

Year

Roser Urreizti, Klaus Mayer, Gilad D. Evrony, Edith Said, Laura Castilla‐Vallmanya, Neal Cody, Guillem Plasencia, Bruce D. Gelb, Daniel Grinberg, Ulrich Brinkmann,

European Journal of Human Genetics

UrologyMendelian DisorderNovel VariantsGenetic DisorderGeneticsInherited Metabolic DiseaseRenal PathologyDisease Gene IdentificationDph1 SyndromeMedicineMissense VariantsVariant Interpretation

References

	Year	Citations

Page 1

Page 1