DMD c.317T>C ;(p.L106P)

Variant ID: X-32841452-A-G

NM_004006.2(DMD):c.317T>C;(p.L106P)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: DMD: L106P
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
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Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract.

European Journal Of Human Genetics : Ejhg
Siggs, Owen M OM; Javadiyan, Shari S; Sharma, Shiwani S; Souzeau, Emmanuelle E; Lower, Karen M KM; Taranath, Deepa A DA; Black, Jo J; Pater, John J; Willoughby, John G JG; Burdon, Kathryn P KP; Craig, Jamie E JE
Publication Date: 2017-06

Variant appearance in text: DMD: 317T>C
PubMed Link: 28272538
Variant Present in the following documents:
  • Main text
View BVdb publication page