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Unknown
(4)
Genomics
(4)
Organisms
Homo sapiens
(4)
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EGA
(4)
Technology Type
Illumina HumanCNV370, Illumina HumanHap 300 v2 Duo, Taqman and sequencing, Illumina Human660W-Quad
(1)
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2025
(2)
2024
(1)
2023
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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
Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.
Not available
S-EPMC12495801
|
biostudies-literature
Cite
<i>PFMG2025</i>-integrating genomic medicine into the national healthcare system in France.
Not available
S-EPMC11910791
|
biostudies-literature
Cite
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.
Not available
S-EPMC10074346
|
biostudies-literature
Cite
Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection.
Not available
S-EPMC11215417
|
biostudies-literature
Cite
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