Varaico: Literature-Extracted Genetic Variants

Gene:SUPT20HL1
Variant:p.A512_A517del0
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SUPT20HL1

NM_001136234.3:p.A512_A517del0

Associated Papers

Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents.

Olkinuora AP et al.

Frontiers in Oncology, 2022

36387175 (PubMed )
Supplement: Table_6.xlsx › Table_S6

Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.

Vaz FM et al.

Brain : a Journal of Neurology, 2019

31637422 (PubMed )
Supplement: awz291_supplementary_data.zip › awz291-Suppl_data › Supplementary_Data2.pdf
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