Explanations for the discrepancy between variant frequency and homozygous disease occurrence: Lessons from Ashkenazi Jewish data
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference29 articles.
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3. Regeneron genetics center; torti E, lee J A, boycott KM, basel-salmon L, ferreira CR, gonzaga-jauregui C. Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities;Bend;Eur. J. Hum. Genet.,2020
4. Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families;Chang;Prenat. Diagn.,2009
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