Elucidating the clinical significance of two PMS2 missense variants coexisting in a family fulfilling hereditary cancer criteria.

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Elucidating the clinical significance of two PMS2 missense variants coexisting in a family fulfilling hereditary cancer criteria.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年學術文章

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Elucidating the clinical signi ...... ng hereditary cancer criteria.

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Elucidating the clinical signi ...... ng hereditary cancer criteria.

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Elucidating the clinical signi ...... ng hereditary cancer criteria.

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P1476

Elucidating the clinical signi ...... ing hereditary cancer criteria

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P2093

Anna Fernández

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Conxi Lázaro

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Guido Plotz

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Matilde Navarro

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Raquel Cuesta

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Sílvia Iglesias

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Xavier Sanjuan

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Xavier de la Cruz

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P2860

Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants

EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome

PMS2 monoallelic mutation carriers: the known unknown

Eukaryotic Mismatch Repair in Relation to DNA Replication

Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines.

Compound heterozygosity for two MSH2 mutations suggests mild consequences of the initiation codon variant c.1A>G of MSH2.

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results.

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.

Mutations in the MutSalpha interaction interface of MLH1 can abolish DNA mismatch repair.

P2888

s10689-017-9981-1

P304

501-507

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scholarly article

P356

10.1007/S10689-017-9981-1

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P433

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P478

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P50

Maribel González-Acosta

Francesc Balaguer

Natàlia Padilla Sirera

Juan Cadiñanos

Maria J Paúles

P577

2017-10-01T00:00:00Z

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P6179

1084026339

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28365877

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