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Copy number analysis from genome sequencing data of 11,754 rare disease parent-child trios: a model for identifying autosomal recessive human gene knockouts including a novel gene for autosomal recessive retinopathy (2024)

First Author: Olinger Eric

Attributed to: Rare Disease Research Platform: The renal ciliopathies national network (RCNN) funded by MRC

Abstract

No abstract provided

Bibliographic Information

Type: Conference/Paper/Proceeding/Abstract

Volume: 32

Parent Publication: EUROPEAN JOURNAL OF HUMAN GENETICS

ISSN: 1018-4813