Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD6
Variant:p.T88M
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ANKRD6

NM_001242809.2:p.T88M

Associated Papers

The molecular landscape of ETMR at diagnosis and relapse.

Lambo S et al.

Nature, 2019

31802000 (PubMed )
Supplement: NIHMS1541318-supplement-Supplementary_Table_6.xlsx › SNVs_Exome_Sequencing

A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis.

Schwerd T et al.

The Journal of Experimental Medicine, 2017

28747427 (PubMed )
Supplement: JEM_20161810_sm.pdf
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