Varaico: Literature-Extracted Genetic Variants

Gene:COL12A1
Variant:p.P1947T
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COL12A1

NM_004370.6:p.P1947T

Associated Papers

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Fichna JP et al.

Human Genomics, 2018

29970176 (PubMed )
Supplement: 40246_2018_167_MOESM2_ESM.xlsx › together

A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease.

Kun-Rodrigues C et al.

Human Molecular Genetics, 2015

26362251 (PubMed )
Supplement: supp_ddv376_ddv376supp_tables.xlsx › Supp._Table_S3
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