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Germline mutation

Mutation spectrums of TSC1 and TSC2 in Chinese women with lymphangioleiomyomatosis (LAM)

Jie Liu, Weiwei Zhao, [ ... ], Nanshan Zhong

Mutation Analysis of Inhibitory Guanine Nucleotide Binding Protein Alpha (GNAI) Loci in Young and Familial Pituitary Adenomas

Hande Demir, Iikki Donner, [ ... ], Auli Karhu

Monoallelic Germline TSC1 Mutations Are Permissive for T Lymphocyte Development and Homeostasis in Tuberous Sclerosis Complex Individuals

Karolina Pilipow, Veronica Basso, Nicola Migone, Anna Mondino

Accumulation of Deleterious Passenger Mutations Is Associated with the Progression of Hepatocellular Carcinoma

Magdalena A. Budzinska, Thomas Tu, [ ... ], Nicholas A. Shackel

ARMC5 mutations in familial and sporadic primary bilateral macronodular adrenal hyperplasia

Liping Yu, Junqing Zhang, [ ... ], Qun He

TP53 Polymorphisms and Colorectal Cancer Risk in Patients with Lynch Syndrome in Taiwan: A Retrospective Cohort Study

Abram Bunya Kamiza, Ling-Ling Hsieh, [ ... ], Chih-Ching Yeh

Deviation from Mendelian transmission of autosomal SNPs can be used to estimate germline mutations in humans exposed to ionizing radiation

Hugo Pereira Leite Filho, Irene Plaza Pinto, [ ... ], Aparecido Divino da Cruz

TP53 p.Arg337His germline mutation prevalence in Southern Brazil: Further evidence for mutation testing in young breast cancer patients

Eriza Cristina Hahn, Camila Matzenbacher Bittar, [ ... ], Patricia Ashton-Prolla

Kidney tumors associated with germline mutations of FH and SDHB show a CpG island methylator phenotype (CIMP)

Christopher J. Ricketts, J. Keith Killian, [ ... ], W. Marston Linehan

A randomized controlled trial comparing self-referred message to family-referred message promoting men’s adherence to evidence-based guidelines on BRCA1/2 germline genetic testing: A registered study protocol

Serena Petrocchi, Giulia Ongaro, [ ... ], Gabriella Pravettoni

BRCA germline mutations in multiethnic gynecologic patients: A 10-year retrospective analysis from a single cancer institute

Christina H. Wei, Susan Shehayeb, [ ... ], Daphne Stewart

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