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Mutation Direct

Effortless mutation search and display tool

Search criteria:
Gene: GALK1 & Disease: Epidermolysis Bullosa Simplex Localized Type, 4 results
ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
552889
--
SNV
LP
8
+
3
225396
--
SNV
LP
6
+
2
931093
--
SNV
VUS
2
+
1
1240734
--
SNV
B
6
+
1
4 Results, 20 per Page
1
Wechat
Comparison
Al agent
Tutorials
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