Varaico: Literature-Extracted Genetic Variants

Gene:MFNG
Variant:p.R302C
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MFNG

NM_002405.4:p.R302C

Associated Papers

Large-scale whole-exome sequencing analyses identified protein-coding variants associated with immune-mediated diseases in 350,770 adults.

Yang L et al.

Nature Communications, 2024

39009607 (PubMed )
Supplement: 41467_2024_49782_MOESM4_ESM.xlsx › Supplementary_Data_18

The landscape of rare genetic variants in familial Waldenström macroglobulinemia.

Pemov A et al.

Blood Neoplasia, 2024

39036705 (PubMed )
Supplement: BNEO_NEO-2023-000111-mmc8.xlsx › Supplementary_Table_7C

Full exome sequencing of 11 families with Hidradenitis suppurativa.

Theut Riis P et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2021

iPSC modeling of severe aplastic anemia reveals impaired differentiation and telomere shortening in blood progenitors.

Melguizo-Sanchis D et al.

Cell Death & Disease, 2018

29374141 (PubMed )
Supplement: 41419_2017_141_MOESM8_ESM.xlsx › SAA1_Deleterious_Hits

Whole exome sequencing in 75 high-risk families with validation and replication in independent case-control studies identifies TANGO2, OR5H14, and CHAD as new prostate cancer susceptibility genes.

Karyadi DM et al.

Oncotarget, 2017

27902461 (PubMed )
Supplement: oncotarget-08-1495-s003.xlsx › Sheet1
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