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SLC45A2 c.113A>G ;(p.H38R)
Variant ID: 5-33984576-T-C
NM_016180.3(
SLC45A2
):c.113A>G;(p.H38R)
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:
Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.
Orphanet Journal Of Rare Diseases
Bouzidi, Aymane A; Charoute, Hicham H; Charif, Majida M; Amalou, Ghita G; Kandil, Mostafa M; Barakat, Abdelhamid A; Lenaers, Guy G
Publication Date: 2022-05-12
Variant appearance in text: SLC45A2: 113A>G; His38Arg
PubMed Link:
35551639
Variant Present in the following documents:
13023_2022_2340_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page