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UnknownA Multisystem Mitochondrial Disease Caused by a Novel MT-TL1 mtDNA Variant: A Case Report.
Not available
S-EPMC9881017 | biostudies-literature
UnknownMultimodal assessment of protein functional deficiency supports pathogenicity of BRCA1 p.V1688del.
Not available
S-EPMC2748232 | biostudies-literature
UnknownCharacterization of three alternative transcripts of the BRCA1 gene in patients with breast cancer and a family history of breast and/or ovarian cancer who tested negative for pathogenic mutations.
Not available
S-EPMC4356434 | biostudies-literature
UnknownValidation and Data-Integration of Yeast-Based Assays for Functional Classification of BRCA1 Missense Variants.
Not available
S-EPMC8999655 | biostudies-literature
UnknownMouse mammary tumor virus (MMTV) - like exogenous sequences are associated with sporadic but not hereditary human breast carcinoma.
Not available
S-EPMC6756874 | biostudies-literature
UnknownThe BRCA1 c.4096+1G>A Is a Founder Variant Which Originated in Ancient Times.
Not available
S-EPMC10648645 | biostudies-literature
UnknownIn Tandem Intragenic Duplication of Doublesex and Mab-3-Related Transcription Factor 1 (DMRT1) in an SRY-Negative Boy with a 46,XX Disorder of Sex Development.
Not available
S-EPMC10671459 | biostudies-literature
UnknownAssociation between the BRCA2 N372H variant and male breast cancer risk: a population-based case-control study in Tuscany, Central Italy.
Not available
S-EPMC2001195 | biostudies-literature
UnknownNext generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndrome.
Not available
S-EPMC6054728 | biostudies-literature
UnknownFunctional Interaction Between BRCA1 and DNA Repair in Yeast May Uncover a Role of RAD50, RAD51, MRE11A, and MSH6 Somatic Variants in Cancer Development.
Not available
S-EPMC6156519 | biostudies-literature
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