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Article

Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases.

Proceedings of the National Academy of Sciences of the United States of America - 4 Feb 2020

Hanany Mor, Rivolta Carlo, Sharon Dror

Abstract excerpt

One of the major questions in human genetics is what percentage of individuals in the general population carry a disease-causing mutation. Based on publicly available information on genotypes from six main world populations, we created a database including data on 276,921 sequence variants, present within 187 genes associated with autosomal recessive (AR) inherited retinal diseases (IRDs). Assessment of these...

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Identifiers

PMID: 31964843
DOI: 10.1073/pnas.1913179117
PMCID: PMC7007541

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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