Article

Whole exome sequencing of Nepalese siblings with Factor X Deficiency identifies an ultra-rare F10 p.F71S mutation: The first homozygous report outside Algeria

2026-08-27

Abstract excerpt

<title>Abstract</title> <p> Background Factor X deficiency (FXD) (OMIM 227600) is an autosomal recessive, rare bleeding disorder (RBD). The genetic cause of FXD is mutations in the gene encoding the Factor X protein (FX) - <italic>F10</italic> (OMIM 613872). This research, the first of its kind in Nepal, presents the molecular characterization of Factor X deficiency in two affected siblings, a brother and sis...

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Literature Corpus work: b087e0bf-adaf-5de5-b2d3-623bf1cb90f8
DOI: 10.21203/rs.3.rs-10540225/v1

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Whole exome sequencing of Nepalese siblings with Factor X Deficiency identifies an ultra-rare F10 p.F71S mutation: The first homozygous report outside AlgeriaDOI 10.21203/rs.3.rs-10540225/v1Read

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