Varaico: Literature-Extracted Genetic Variants

Gene:MC5R
Variant:p.T305I
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MC5R

NM_005913.3:p.T305I

Associated Papers

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

Linkage analysis revealed risk loci on 6p21 and 18p11.2-q11.2 in familial colon and rectal cancer, respectively.

von Holst S et al.

European Journal of Human Genetics : Ejhg, 2019

Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.

Surendran P et al.

Nature Genetics, 2016

27618447 (PubMed )
Supplement: NIHMS69533-supplement-Supplementary_Tables.xlsx › Supplementary_Table_05

Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Cereda M et al.

Nature Communications, 2016

27377421 (PubMed )
Supplement: ncomms12072-s6.xlsx › Supplementary_Data_5
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