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Article

Lessons Learned from CNV Analysis of Major Birth Defects.

International journal of molecular sciences - 3 Nov 2020

Hilger Alina Christine, Dworschak Gabriel Clemens, Reutter Heiko Martin

Abstract excerpt

The treatment of major birth defects are key concerns for child health. Hitherto, for the majority of birth defects, the underlying cause remains unknown, likely to be heterogeneous. The implicated mortality and/or reduced fecundity in major birth defects suggest a significant fraction of mutational de novo events among the affected individuals. With the advent of systematic array-based molecular karyotyping,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 33153233
DOI: 10.3390/ijms21218247
PMCID: PMC7663563

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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