Varaico: Literature-Extracted Genetic Variants

Gene:CNDP1
Variant:p.D43_L44insTGC
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CNDP1

NM_032649.6:p.D43_L44insTGC

Associated Papers

Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines.

Hernandez N et al.

The Journal of Experimental Medicine, 2019

31270247 (PubMed )
Supplement: JEM_20182295_sm.pdf

Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia.

Bhattacharya S et al.

Genome Research, 2018

29567674 (PubMed )
Supplement: supp_gr.223693.117_Supplemental_Table_S8.xls › Indels_Exonic

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Schrader A et al.

Nature Communications, 2018

29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › a__Freq_TP094

BAP1 loss defines a new class of renal cell carcinoma.

Peña-Llopis S et al.

Nature Genetics, 2012

22683710 (PubMed )
Supplement: NIHMS377160-supplement-Suppl__Data_2.xlsx › Suppl._Data_2
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