Varaico: Literature-Extracted Genetic Variants

Gene:COL7A1
Variant:p.R549Q
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COL7A1

NM_000094.4:p.R549Q

Associated Papers

Whole Exome Sequencing Confirms Molecular Diagnostics of Three Pakhtun Families With Autosomal Recessive Epidermolysis Bullosa.

Fozia F et al.

Frontiers in Pediatrics, 2021

34414147 (PubMed )
Supplement: Table_1.docx

NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study.

Singh K et al.

Bmc Medical Genetics, 2020

Integrated Somatic and Germline Whole-Exome Sequencing Analysis in Women with Lung Cancer after a Previous Breast Cancer.

Coco S et al.

Cancers, 2019

30925779 (PubMed )
Supplement: cancers-11-00441-s001.zip › cancers-452240-Supplementary › Table_S3.xlsx › Table_S3
Select a paper to view details
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