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Journal of Medical Genetics|February 3, 2016
HSP110 T17 simplifies and improves the microsatellite instability testing in patients with colorectal cancerOlivier Buhard, Anaïs Lagrange, Agathe Guilloux, et al.
Clinical Genetics|February 29, 2024
Cerebral dural arteriovenous fistulas in patients with PTEN-related hamartoma tumor syndromeAnna Gerasimenko, Cyril Mignot, Olivier Naggara, et al.
Cancer Research|July 10, 2020
Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model SystemHélène Tubeuf, Sandrine M Caputo, Teresa Sullivan, et al.
Human Mutation|August 21, 2010
Leiden Open Variation Database of the MUTYH geneAstrid A Out, Carli M J Tops, Maartje Nielsen, et al.
Journal of the National Cancer Institute|September 29, 2022
Cancer risks by sex and variant type in PTEN hamartoma tumor syndromeLinda A J Hendricks, Nicoline Hoogerbrugge, Arjen R Mensenkamp, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 18, 2019
An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndromeManon Suerink, Mar Rodríguez-Girondo, Heleen M van der Klift, et al.
International Journal of Cancer|June 12, 2025
Deciphering dual clinical entities associated with TP53 pathogenic variants: Insights from 53,085 HBOC panel analyses in French laboratoriesEdwige Kasper, Flavie Boulouard, Noémie Basset, et al.
Gastroenterology|December 31, 2022
Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair DeficiencyRichard Gallon, Rachel Phelps, Christine Hayes, et al.
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