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Article

Uncertain, Not Unimportant: Callosal Dysgenesis and Variants of Uncertain Significance in ROBO1.

Pediatrics - 1 Jul 2021

Woodring Therese S, Mirza Mohammed H, Benavides Valeria, Ellsworth Katarzyna A, Wright Meredith S, Javed M Jawad, Ramiro Susan

Abstract excerpt

Congenital anomalies affect 3% to 5% of births and remain the leading cause of infant death in the United States. As whole exome and genome sequencing are increasingly used to diagnose underlying genetic disease, the patient's clinical presentation remains the most important context for interpreting sequencing results, including frequently reported variants of uncertain significance (VUS). Classification of a...

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Identifiers

PMID: 34193621
DOI: 10.1542/peds.2020-019000

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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