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Article

Gene constraint and genotype-phenotype correlations in neurodevelopmental disorders.

Current opinion in genetics & development - 1 Dec 2020

Betancur Catalina, Buxbaum Joseph D

Abstract excerpt

With the advent and widespread adoption of high-throughput DNA sequencing, genetic discoveries in neurodevelopmental disorders (NDDs) are advancing very rapidly. The identification of novel NDD genes and of rare, highly penetrant pathogenic variants is leading to improved understanding of genotype-phenotype correlations. Here we emphasize the importance of large-scale, reference databases such as gnomAD to...

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Identifiers

PMID: 32599522
DOI: 10.1016/j.gde.2020.05.036
PMCID: PMC10340126

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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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