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Five Novel Deleterious Variants in FANCA, FANCF and FANCG Identified in Pakistani Fanconi Anemia Families Using Exome Sequencing

2020-10-07

Abstract excerpt

<title>Abstract</title> <p><bold>Background </bold>Fanconi anemia (FA), a cancer-prone inherited bone marrow failure syndrome associated with characteristic dysmorphology is primarily caused by autosomal recessive inheritance of pathogenic germline variants in any of 22 different DNA repair genes. Pathogenic variants in <italic>FANCA</italic> are the most frequent cause, followed by <italic>FANCC </italic>and <it...

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Literature Corpus work
885094ef-30ab-5e3b-9c22-630df624b3a2
DOI
10.21203/rs.3.rs-52108/v1
Open publication

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Five Novel Deleterious Variants in&nbsp;FANCA,&nbsp;FANCF&nbsp;and&nbsp;FANCG&nbsp;Identified in Pakistani Fanconi Anemia Families Using Exome SequencingDOI 10.21203/rs.3.rs-52108/v1
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