Exome sequencing data for CLEC3B

Published: 17 March 2022| Version 2 | DOI: 10.17632/xcw5x5z49r.2
Contributor:
Rong Zhou

Description

Genomic DNA was extracted from peripheral blood using the Genomic DNA Extraction Kit (Invitrogen, Grand Island, NY, US). Exome sequencing data from six patients with inherited macular disorders and three healthy relatives, were analyzed for shared rare variants. ES data of six affected individuals (F1: IV-24, F1: VI-2, F2: IV-2, F3: IV-2, F3: V-3, and F5: V-10) and three unaffected siblings (F3: V-4, F3: V-6 and F5: IV-13) from five Japanese families. A total of ten variants in the SCN11A, GORASP1, ZNF662, TGM4, CLEC3B, DSPP, SYT8, ZCCHC14, and EVPL genes, were consistent with cosegregation analysis.

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Institutions

Wenzhou Medical University

Categories

Exome Sequencing

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