{"id":"xcw5x5z49r","doi":{"id":"10.17632/xcw5x5z49r.2","status":"allocated","prefix":"10.17632"},"name":"Exome sequencing data for CLEC3B","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.","version":2,"contributors":[{"profile_id":"0ce8fd4b-5d58-39f3-9af4-fbdc7b544d53","first_name":"Rong","last_name":"Zhou"}],"files":[{"filename":"exonic-CLEC3B-upload.xlsx","id":"cf7939ff-a978-4e29-b713-5e3152c0c50b","content_details":{"id":"c0e8e2eb-e82a-4d36-9304-a9a59914a125","sha256_hash":"b30305402a4d2aeebc3be1af15ee594b7f19c6a3fa5912060b7d9bf5473b3f0b","content_type":"application/vnd.openxmlformats-officedocument.spreadsheetml.sheet","size":25106391,"created_date":"2021-12-13T12:23:57.07Z","download_url":"https://data.mendeley.com/public-files/datasets/xcw5x5z49r/files/cf7939ff-a978-4e29-b713-5e3152c0c50b/file_downloaded","view_url":"https://data.mendeley.com/public-files/datasets/xcw5x5z49r/files/cf7939ff-a978-4e29-b713-5e3152c0c50b/file_viewed","download_expiry_time":"2126-09-11T15:51:45.498938624Z"},"metrics":{"downloads":0,"previews":0},"size":25106391,"status":"COMPLETED"}],"versions":[{"version":2,"available":true,"publish_date":"2022-03-17T08:42:37.972Z"},{"version":1,"available":false,"publish_date":"2022-03-10T15:11:10.297Z","embargo_date":"2022-12-21T23:59:59Z"}],"articles":[],"categories":[{"id":"data.elsevier.com/vocabulary/OmniScience/Concept-481238601","label":"Exome Sequencing"}],"institutions":[{"id":"229ed744-3437-566a-8d06-f008e0f9ece3","name":"Wenzhou Medical University","ror_id":"https://ror.org/00rd5t069"}],"metrics":{"views":0,"file_downloads":0,"file_previews":0},"available":true,"size":25106391,"owner":{"profile_id":"0ce8fd4b-5d58-39f3-9af4-fbdc7b544d53","first_name":"Rong","last_name":"Zhou"},"channel":"WEB","owner_id":"0ce8fd4b-5d58-39f3-9af4-fbdc7b544d53","publish_date":"2022-03-17T08:42:37.972Z","data_licence":{"id":"01d9c749-3c4d-4431-9df3-620b2dcfe144","description":"You can share, copy and modify this dataset so long as you give appropriate credit, provide a link to the CC BY license, and indicate if changes were made, but you may not do so in a way that suggests the rights holder has endorsed you or your use of the dataset. Note that further permission may be required for any content within the dataset that is identified as belonging to a third party.","url":"http://creativecommons.org/licenses/by/4.0","category":"Creative","short_name":"CC BY 4.0","full_name":"Creative Commons Attribution 4.0 International"},"related_links":[],"funders":[],"customer_id":"7377952c-6404-4428-bbfc-77242cfc301e","modified_on":"2022-03-15T00:37:42.958Z","created_on":"2021-12-13T12:21:57.706Z","confidential":false,"links":{"view":"https://data.mendeley.com/datasets/xcw5x5z49r"},"repository":{"id":"MENDELEY_DATA","name":"Mendeley Data"}}