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UnknownA quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome.
Not available
S-EPMC12548217 | biostudies-literature
UnknownSpecifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.
Not available
S-EPMC8374922 | biostudies-literature
UnknownBiallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Not available
S-EPMC10932913 | biostudies-literature
UnknownFinal, 10-Year Outcomes with Nivolumab plus Ipilimumab in Advanced Melanoma.
Not available
S-EPMC12080919 | biostudies-literature
UnknownA second update on mapping the human genetic architecture of COVID-19.
Not available
S-EPMC10482689 | biostudies-literature
GenomicsATD
WTCCC1 project Autoimmune Thyroid Disease (ATD) samples
EGAD00000000011 | EGA
GenomicsBC
WTCCC1 project Breast cancer (BC) samples
EGAD00000000013 | EGA
GenomicsMS
WTCCC1 project Multiple Sclerosis (MS) samples
EGAD00000000012 | EGA
GenomicsWTCCC2 Ankylosing spondylitis cases - individual
WTCCC1 project Ankylosing Spondylitis (AS) samples
EGAD00000000010 | EGA
Genomics58C
WTCCC1 project samples from 1958 British Birth Cohort
EGAD00000000014 | EGA
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