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UnknownLUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants.
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S-EPMC10811831 | biostudies-literature
UnknownBi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
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S-EPMC6408318 | biostudies-literature
UnknownGain-of-function mutations in <i>ALPK1</i> cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.
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S-EPMC9484401 | biostudies-literature
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