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5d7bc34b-73f8-495f-b849-5afe235d7056 - samples

ABSTRACT: Whole Exome sequencing of a set of Spanish patients suffering rare genetic diseases. The set consists of 4 patients, one was diagnosed with Retinitis Pigmentosa (RP-1629), another one was diagnosed with Macular Dystrophy (MD-0235) and two were diagnosed with Leber's Congenital Amaurosis (LCA-0081 and LCA-0103).

PROVIDER: EGAD00001005746 | EGA |

REPOSITORIES: EGA

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8de4adbc-63de-4b42-864b-3538902a0d09 - samples

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