Varaico: Literature-Extracted Genetic Variants

Gene:CFAP96
Variant:p.V259fs
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CFAP96

NM_001114357.3:p.V259fs

Associated Papers

The OSMR Gene Is Involved in Hirschsprung Associated Enterocolitis Susceptibility through an Altered Downstream Signaling.

Bachetti T et al.

International Journal of Molecular Sciences, 2021

33917126 (PubMed )
Supplement: ijms-22-03831-s001.zip › TableS1_IJMS_Lantieri.xlsx › Sheet1

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
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