Varaico: Literature-Extracted Genetic Variants

Gene:SPACA1
Variant:p.R146H
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SPACA1

NM_030960.3:p.R146H

Associated Papers

Evolutionary history of adenomas to colorectal cancer in FAP families.

Yang C et al.

Frontiers in Genetics, 2024

39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 18R12365.xls › SNVIndel

A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in LTBP3.

Flex E et al.

Genes, 2021

34573388 (PubMed )
Supplement: genes-12-01406-s001.zip › genes-1354874-supplementary.pdf
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