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UnknownFANCA c.3624C>T (p.Ser1208=) is a hypomorphic splice variant associated with delayed onset of Fanconi anemia.
Not available
S-EPMC10875269 | biostudies-literature
UnknownEsophageal cancer as initial presentation of Fanconi anemia in patients with a hypomorphic FANCA variant.
Not available
S-EPMC7784490 | biostudies-literature
UnknownA novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency.
Not available
S-EPMC5722658 | biostudies-literature
UnknownGenetic inactivation of FAAP100 causes Fanconi anemia due to disruption of the monoubiquitin ligase core complex.
Not available
S-EPMC12126235 | biostudies-literature
UnknownA founder variant in the South Asian population leads to a high prevalence of FANCL Fanconi anemia cases in India.
Not available
S-EPMC7362330 | biostudies-literature
UnknownG-quadruplexes as a source of vulnerability in BRCA2<i>-</i>deficient granule cell progenitors and medulloblastoma.
Not available
S-EPMC12415258 | biostudies-literature
UnknownPatterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals.
Not available
S-EPMC10119133 | biostudies-literature
UnknownLow incidence of DNA sequence variation in human induced pluripotent stem cells generated by nonintegrating plasmid expression.
Not available
S-EPMC3298448 | biostudies-literature
UnknownAssociation of clinical severity with FANCB variant type in Fanconi anemia.
Not available
S-EPMC7193183 | biostudies-literature
UnknownHLA and autoantibodies define scleroderma subtypes and risk in African and European Americans and suggest a role for molecular mimicry.
Not available
S-EPMC6955366 | biostudies-literature
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