F2 c.391C>T ;(p.L131=)

Variant ID: 11-46744804-C-T

NM_000506.3(F2):c.391C>T;(p.L131=)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta.

Orphanet Journal Of Rare Diseases
Lin, Hsiang-Yu HY; Chuang, Chih-Kuang CK; Su, Yi-Ning YN; Chen, Ming-Ren MR; Chiu, Hui-Chin HC; Niu, Dau-Ming DM; Lin, Shuan-Pei SP
Publication Date: 2015-12-01

Variant appearance in text: F2: 391C>T
PubMed Link: 26627451
Variant Present in the following documents:
  • Main text
  • 13023_2015_Article_370.pdf
View BVdb publication page