Varaico: Literature-Extracted Genetic Variants

Gene:FER1L6
Variant:p.C1728Y
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FER1L6

NM_001039112.2:p.C1728Y

Associated Papers

A novel mutation of CTC1 leads to telomere shortening in a chinese family with interstitial lung disease.

Liu L et al.

Hereditas, 2023

Hardy-Weinberg Equilibrium in the Large Scale Genomic Sequencing Era.

Abramovs N et al.

Frontiers in Genetics, 2020

32231685 (PubMed )
Supplement: Data_Sheet_1.xlsx › Supplementary_Table_1

Plasma transfusion combined with chelating therapy alleviates fulminant Wilson's disease with a single Arg778Leu heterozygote mutation.

Liu L et al.

Annals of Hepatology, 0

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