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Unknown
(8)
Genomics
(4)
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Homo sapiens
(4)
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EGA
(4)
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Illumina HumanCNV370, Illumina HumanHap 300 v2 Duo, Taqman and sequencing, Illumina Human660W-Quad
(1)
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2011
(3)
2023
(2)
2024
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2022
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2021
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CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
Not available
S-EPMC10169411
|
biostudies-literature
Cite
MELARISK_SNP_MITF_geno
Genotypes at MITF E318K variant
EGAD00000000122
|
EGA
Cite
MELARISK_MITF_geno
Genotypes at MITF E318K variant
EGAD00000000121
|
EGA
Cite
A MITF germline mutation predisposes to melanoma and renal cell carcinoma
Study EGAS00000000048
EGAS00000000048
|
EGA
Cite
MELARISK Data Access Committee
Access to data generated by the MELARISK is available by emailing application to the data access committee and will be granted to qualified investigators for appropriate use.
EGAC00000000016
|
EGA
Cite
Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection.
Not available
S-EPMC11215417
|
biostudies-literature
Cite
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19.
Not available
S-EPMC8532080
|
biostudies-literature
Cite
Pathway-based analysis of a melanoma genome-wide association study: analysis of genes related to tumour-immunosuppression.
Not available
S-EPMC3246481
|
biostudies-literature
Cite
Genome-wide association study identifies novel loci predisposing to cutaneous melanoma.
Not available
S-EPMC3298855
|
biostudies-literature
Cite
Genome-wide association study identifies three new melanoma susceptibility loci.
Not available
S-EPMC3251256
|
biostudies-literature
Cite
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