Article

A mutation in CACNA1F gene found by Whole Exome Sequencing (WES) and in silico analysis in an Iranian family with consanguineous relationships

2023-11-14

Abstract excerpt

During a premarital study of a family-related couple, some exonic mutations in different genes under autosomal recessive and X-linked genetic inheritances were observed in the female case. After genetic counseling, DNA was extracted from the blood of the men and women, and then the Whole Exome Sequencing (WES) technique was used to look for possible pathogenic mutations in the two individuals. Also, after drawing...

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Identifiers and source

Literature Corpus work: 46b63225-16bd-5709-acba-5ef4371674b2
DOI: 10.21203/rs.3.rs-3578544/v1

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A mutation in CACNA1F gene found by Whole Exome Sequencing (WES) and in silico analysis in an Iranian family with consanguineous relationshipsDOI 10.21203/rs.3.rs-3578544/v1Read

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