Varaico: Literature-Extracted Genetic Variants

Gene:FAM186A
Variant:p.I1484T
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FAM186A

NM_001145475.3:p.I1484T

Associated Papers

Metastatic and recurrent adrenocortical cancer is not defined by its genomic landscape.

Fojo T et al.

Bmc Medical Genomics, 2020

33148256 (PubMed )
Supplement: 12920_2020_809_MOESM2_ESM.xlsx › Supplemental_Table_1__part_1_

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.

Qin Z et al.

Frontiers in Genetics, 2020

32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_2.XLSX › patient_3

Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella.

Shen Y et al.

Nature Communications, 2019

30683861 (PubMed )
Supplement: 41467_2018_8182_MOESM10_ESM.xls › PA
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."