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UnknownU2AF65 adapts to diverse pre-mRNA splice sites through conformational selection of specific and promiscuous RNA recognition motifs.
Not available
S-EPMC3616741 | biostudies-literature
GenomicsA novel recurrent mutation in MITF predisposes to familial and sporadic melanoma

We conducted whole-genome sequencing of probands from several melanoma families, identifying one individual carrying a novel germline variant (c.G1075A, NM_000248.3; p.E318K, NP_000239.1; rs149617956) in the melanoma lineage-specific oncogene MITF. While the variant cosegregated with melanoma in ...

phs000419.v1.p1 | EGA
TranscriptomicsA novel recurrent mutation in MITF predisposes to familial and sporadic melanoma
We identified a novel germline mutation of the microphthalmia-associated transcription factor (MITF - E318K). This mutation was found to be present in numerous melanoma families, as well as the general population, where its association with melanoma has a significant effect. We determined the effe...
ORGANISM(S): Homo sapiens 
2011-12-01 | E-GEOD-31269 | biostudies-arrayexpress
UnknownMicrotubule Acetylation Is Required for Mechanosensation in Drosophila.
Not available
S-EPMC6248335 | biostudies-literature
GenomicsCohort-Based Genome-Wide Association Study of Glioma (GliomaScan)

We conducted a new independent GWAS of adult glioma using 1,856 cases and 4,955 controls from 14 cohort studies belonging to the Cohort Consortium, 3 case-control studies, and 1 population-based case only study. Cases were newly diagnosed glioma [ICDO-3 codes 9380-9480 or equivalent], and control...

phs000652.v1.p1 | EGA
GenomicsABO_OICR_DATASET - samples
OICR PANCREATIC CANCER DATASET
EGAD00001000262 | EGA
GenomicsABO_OICR_DATASET_2 - samples
OICR PANCREATIC CANCER DATASET 2
EGAD00001000276 | EGA
GenomicsICGC_PACA-AU_20160429 - samples
Additional sequencing data for 173 donors in EGAS00001000154, a study of Pancreatic Ductal Adenocarcinoma. WGS libraries were used for high-cellularity cases, WXS sequencing to high depth on low-cellularity cases. HiSeq 2xxx platform was used in all cases. The analysis files associated with this dat...
EGAD00001002192 | EGA
UnknownHeterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
Not available
S-EPMC6556837 | biostudies-literature
GenomicsGenome Landscape of Primary Pancreatic Ductal Adenocarcinoma
The purpose of the Australian ICGC Pancreatic Cancer Genome Sequencing Initiative study is to identify the common driving mutations underlying the initiation and development of Pancreatic Adenocarcinoma in a large cohort of pancreatic cancer patients (n=350). Matched genome sequences will be generat...
EGAS00001000154 | EGA
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