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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
Amyotrophic Lateral Sclerosis 1
USH2A c.8559-2A>G
Cystic Fibrosis
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Mutation Direct
Effortless mutation search and display tool
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Search criteria:
Gene:
SLC51B
& Disease:
Cholestasis
, 1 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
804474
SLC51B
c.84del
p.Arg29fs (p.R29fs)
NM_178859.4
M
Del
P
3
+
1
1 Results, 20 per Page
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