Varaico: Literature-Extracted Genetic Variants

Gene:SMPD3
Variant:p.V454I
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SMPD3

NM_018667.4:p.V454I

Associated Papers

Germline and Somatic Whole-Exome Sequencing Identifies New Candidate Genes Involved in Familial Predisposition to Serrated Polyposis Syndrome.

Soares de Lima Y et al.

Cancers, 2021

33672345 (PubMed )
Supplement: cancers-13-00929-s001.zip › Soares_de_Lima_et_al_Supplementary_material.pdf

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 702.278
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