PMC:1584416 / 33728-33843 JSONTXT

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{"project":"craft-ca-core-dev","denotations":[{"id":"T6006","span":{"begin":107,"end":114},"obj":"SO:0001023"}],"text":"carries a different recessive alteration. Finally, our data highlight the potential of clinically relevant alleles "}

{"project":"craft-ca-core-ex-dev","denotations":[{"id":"T6037","span":{"begin":30,"end":40},"obj":"SO_EXT:sequence_alteration_entity_or_process"},{"id":"T6038","span":{"begin":107,"end":114},"obj":"SO_EXT:0001023"}],"text":"carries a different recessive alteration. Finally, our data highlight the potential of clinically relevant alleles "}