Varaico: Literature-Extracted Genetic Variants

Gene:COL21A1
Variant:p.P583R
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COL21A1

NM_030820.4:p.P583R

Associated Papers

ConVarT: a search engine for matching human genetic variants with variants from non-human species.

Pir MS et al.

Nucleic Acids Research, 2022

34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S9.xls › Sheet1

Whole Exome Sequencing of 23 Multigeneration Idiopathic Scoliosis Families Reveals Enrichments in Cytoskeletal Variants, Suggests Highly Polygenic Disease.

Terhune EA et al.

Genes, 2021

34208743 (PubMed )
Supplement: genes-12-00922-s001.zip › genes-1246102-supplementary-final › File_S2.pdf

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Schrader A et al.

Nature Communications, 2018

29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › c__Freq_TP092
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