Varaico: Literature-Extracted Genetic Variants

Gene:XK
Variant:p.Y370D
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XK

NM_021083.4:p.Y370D

Associated Papers

Using whole-genome sequencing to characterize clinically significant blood groups among healthy older Australians.

Jadhao S et al.

Blood Advances, 2022

35420653 (PubMed )
Supplement: mmc1.xlsx › Supplementary_table3

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 › e__Freq_TP095

Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome.

Shaw M et al.

European Journal of Medical Genetics, 0

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