– Human venous valve disease caused by mutations in FOXC2 and GJC2
– A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis
– Variants in the fetal genome near FLT1 are associated with risk of preeclampsia
– Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia
– Identification of sequence variants influencing immunoglobulin levels
Nuevas variantes, mutaciones y asociaciones
Filed under Diagnóstico, Polimorfismos by on . 
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