PMC:1584416 / 24320-24816
Annnotations
craft-sa-dev
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phenotypic consequences, referred to here as biallelic effects, resulting from two different mutant alleles in compound heterozygote patients have been postulated, such effects have historically been difficult to distinguish from the influence of environment and genetic background. 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craft-ca-core-dev
{"project":"craft-ca-core-dev","denotations":[{"id":"T4199","span":{"begin":56,"end":63},"obj":"SO:0001023"},{"id":"T4200","span":{"begin":109,"end":116},"obj":"SO:0001023"},{"id":"T4201","span":{"begin":272,"end":279},"obj":"SO:0000704"},{"id":"T4202","span":{"begin":302,"end":313},"obj":"SO:0000704"},{"id":"T4203","span":{"begin":322,"end":331},"obj":"NCBITaxon:40674"},{"id":"T4204","span":{"begin":484,"end":487},"obj":"PR:000007164"},{"id":"T4205","span":{"begin":488,"end":495},"obj":"SO:0001023"}],"text":"Although phenotypic consequences, referred to here as biallelic effects, resulting from two different mutant alleles in compound heterozygote patients have been postulated, such effects have historically been difficult to distinguish from the influence of environment and genetic background. We used a genetically defined mammalian model system under controlled environmental conditions to reveal phenotypic effects attributable specifically to combinations of differentially mutated Xpd alleles."}
craft-ca-core-ex-dev
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