biallelic

biallelic

adjective Referring to 2 alleles.
References in periodicals archive ?
Biallelic pathogenic variants of the MPI gene lead to enzymatic deficiencies of mannose-6-phosphate isomerase (MPI enzyme) associated with the clinical syndrome MPI-CDG.
Gudmundsdottir Clinical phenotype in heterozygote and biallelic Bernard-Soulier syndrome-A case control study.
The team identified loss-of-function mutations that were both rare (affecting less than 1 percent of the cohort) and biallelic (affecting both copies of the gene) in 266 people with autism.
Biallelic inactivation of the LHCGR causes Leydig cell hypoplasia (LCH, OMIM#238320) that leads to male disorders of sexual differentiation (DSD).
Biallelic inactivation of the SDHC gene in renal carcinoma associated with paraganglioma syndrome type 3.
Biallelic mutations in MYORG cause autosomal recessive primary familial brain calcification.
The EC approved the one-time gene therapy LUXTURNA for the treatment of vision loss due to inherited retinal dystrophy caused by confirmed biallelic RPE65 mutations, in paediatric and adult patients who have sufficient viable retinal cells.
He told that the research reports of our faculty members have already been published in prominent international research journals were included on the topic of Biallelic loss-of-function variants in DNMBP cause infantile cataract and In-frame deletion of human ESPN is associated with deafness vesttibulopathy and vision impairment by Dr.
He told that the research reports of our faculty members have already been published in prominent international research journals were incuded on the topic of Biallelic loss-of-function variants in DNMBP cause infantile cataract and Inframe deletion of human ESPN is associated with deafness vesttibulopathy and vision impairment by Dr.
Biallelic mutations in the abnormal spindle-like, microcephaly associated gene ASPM causes MCPH type 5, the most common MCPH subtype.
LUXTURNA is a one-time gene therapy for the treatment of patients with vision loss due to inherited retinal dystrophy caused by confirmed biallelic RPE65 mutations and viable retinal cells.