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Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis.
Not available
S-EPMC3596852
|
biostudies-literature
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Mutational landscape, clonal evolution patterns, and role of RAS mutations in relapsed acute lymphoblastic leukemia.
Not available
S-EPMC5056035
|
biostudies-literature
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International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndrome.
Not available
S-EPMC8611111
|
biostudies-literature
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Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk.
Not available
S-EPMC7675034
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biostudies-literature
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Rate of infection following revision anterior cruciate ligament reconstruction and associated patient- and surgeon-dependent risk factors: Retrospective results from MOON and MARS data collected from 2002 to 2011.
Not available
S-EPMC7854959
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biostudies-literature
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Maternal BMI Associations with Maternal and Cord Blood Vitamin D Levels in a North American Subset of Hyperglycemia and Adverse Pregnancy Outcome (HAPO) Study Participants.
Not available
S-EPMC4778858
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biostudies-literature
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The <i>FANCM</i>:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer.
Not available
S-EPMC6825205
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biostudies-literature
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Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer.
Not available
S-EPMC4853421
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biostudies-literature
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A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers.
Not available
S-EPMC7890067
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biostudies-literature
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Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus.
Not available
S-EPMC4962376
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biostudies-literature
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