Robuta

https://www.jci.org/articles/view/92069 JCI - Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia in the ubiquitin ligase jci biallelic mutations https://www.jci.org/articles/view/184474/pdf JCI - Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy https://elifesciences.org/articles/51319v3/figures Figures and data in Biallelic TANGO1 mutations cause a novel syndromal disease due to hampered... The first human TANGO1-associated syndromal disease manifests as impaired collagen secretion, highlighting the importance of TANGO1 in human pathophysiology. https://pmc.ncbi.nlm.nih.gov/articles/PMC11594631/ Biallelic Germline BRCA1 Frameshift Mutations Associated with Isolated Diminished Ovarian Reserve -... The use of next-generation sequencing (NGS) has recently enabled the discovery of genetic causes of primary ovarian insufficiency (POI) with high genetic... frameshift mutations associated with biallelic germline brca1 https://pmc.ncbi.nlm.nih.gov/articles/PMC13065322/ Novel biallelic DNHD1 variants associated with male infertility with severe MMAF phenotype - PMC Multiple morphological abnormalities of the sperm flagella (MMAF), characterized by severe morphological sperm defects, such as absent, short, irregular... associated with https://elifesciences.org/articles/51319v2/peer-reviews Peer review in Biallelic TANGO1 mutations cause a novel syndromal disease due to hampered cellular... The first human TANGO1-associated syndromal disease manifests as impaired collagen secretion, highlighting the importance of TANGO1 in human pathophysiology. https://www.jci.org/articles/view/134966 JCI - Human NK cell deficiency as a result of biallelic mutations in MCM10 as a result https://pmc.ncbi.nlm.nih.gov/articles/PMC2253971/ Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in Humans - PMC We describe a distinct retinal disorder, autosomal-recessive bestrophinopathy (ARB), that is consequent upon biallelic mutation in BEST1 and is associated with... in humans biallelic mutation best1 causes https://www.jci.org/articles/view/140625/sd/4 JCI - Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal... https://www.frontiersin.org/journals/cardiovascular-medicine/articles/10.3389/fcvm.2024.1461899/full Frontiers | Case Report: Allelic and biallelic variants in coagulation factor XI cause factor XI... Factor XI deficiency is a rare inherited coagulation disorder with an estimated prevalence of affecting 1 in 1 million. It is characterized by mild and varia... coagulation factor xi case report