Title : Expanding the Genetic and Phenotypic Spectrum of Female Infertility Caused by TUBB8 Mutations.

Pub. Date : 2021 Dec

PMID : 34494234






3 Functional Relationships(s)
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1 We found five heterozygous variants: c.C208A(p.P70T), c.T907C(p.C303R), c.G173A(p.R58K), c.G326T(p.G109V), and c.C916T(p.R306C) in TUBB8 among six infertile patients characterized by abnormal phenotypes in oocyte maturation, fertilization, or embryo development. c303r tubulin beta 8 class VIII Homo sapiens
2 We found five heterozygous variants: c.C208A(p.P70T), c.T907C(p.C303R), c.G173A(p.R58K), c.G326T(p.G109V), and c.C916T(p.R306C) in TUBB8 among six infertile patients characterized by abnormal phenotypes in oocyte maturation, fertilization, or embryo development. g326t tubulin beta 8 class VIII Homo sapiens
3 We found five heterozygous variants: c.C208A(p.P70T), c.T907C(p.C303R), c.G173A(p.R58K), c.G326T(p.G109V), and c.C916T(p.R306C) in TUBB8 among six infertile patients characterized by abnormal phenotypes in oocyte maturation, fertilization, or embryo development. g109v tubulin beta 8 class VIII Homo sapiens