Varaico: Literature-Extracted Genetic Variants

Gene:FAT4
Variant:p.P247S
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FAT4

NM_001291303.3:p.P247S

Associated Papers

Mutation in CEP135 causing primary microcephaly and subcortical heterotopia.

Bamborschke D et al.

American Journal of Medical Genetics. Part A, 2020

32643282 (PubMed )
Supplement: supplement_1.docx

Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing.

Vogelaar IP et al.

European Journal of Human Genetics : Ejhg, 2017

28875981 (PubMed )
Supplement: ejhg2017138x4.xlsx › Suppl_Table_4
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