Varaico: Literature-Extracted Genetic Variants

Gene:PYCR1
Variant:p.R112W
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PYCR1

NM_006907.4:p.R112W

Associated Papers

High-impact FN1 mutation decreases chondrogenic potential and affects cartilage deposition via decreased binding to collagen type II.

van Hoolwerff M et al.

Science Advances, 2021

34739320 (PubMed )
Supplement: sciadv.abg8583_sm.pdf

Functional Characterization of Rare RAB12 Variants and Their Role in Musician's and Other Dystonias.

Hebert E et al.

Genes, 2017

29057844 (PubMed )
Supplement: genes-08-00276-s001.pdf

In silico screening, molecular docking, and molecular dynamics studies of SNP-derived human P5CR mutants.

Sang P et al.

Journal of Biomolecular Structure & Dynamics, 2017

27677826 (PubMed )
Supplement: supplement_1.zip › Supplementary_file › Supplementary_Information.doc
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