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NM_001127671.1:c.380dup
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NM_001127671.1:c.380dup
HGVS Expressions
NG_011817.1:g.73234dup
NM_001127671.1:c.380dup
NP_001121143.1:p.Asn128LysfsTer2
NC_000005.10:g.38527172dup
Associated Genes
Leukemia Inhibitory Factor Receptor
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CTGA Clinical Significance
Likely Pathogenic
Variant Type
Duplication
Epidemiology in the Arab World
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Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
601559.8
Lebanon
1
Likely Pathogenic
Stuve-Wiedemann Syndrome
Jung et al. 2010
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Contributors
Pratibha Nair: 07.07.2021
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Pratibha Nair: 07.07.2021
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Algeria
Bahrain
Comoros
Country not specified
Djibouti
Egypt
Eritrea
Iraq
Jordan
Kuwait
Lebanon
Libya
Mauritania
Morocco
Oman
Palestine
Qatar
Saudi Arabia
Somalia
Sudan
Syria
Tunisia
United Arab Emirates
Yemen
Arab Countries with reported incidence
Arab Countries without reported incidence
Non-Arab Countries
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