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Q36814605-5B390B2C-8331-4268-A7C7-D40E0DBE23AF
Q36814605-5B390B2C-8331-4268-A7C7-D40E0DBE23AF
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Statement
http://www.wikidata.org/entity/statement/Q36814605-5B390B2C-8331-4268-A7C7-D40E0DBE23AF
A homozygous telomerase T-motif variant resulting in markedly reduced repeat addition processivity in siblings with Hoyeraal Hreidarsson syndrome.
P2860
Q36814605-5B390B2C-8331-4268-A7C7-D40E0DBE23AF
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36814605-5B390B2C-8331-4268-A7C7-D40E0DBE23AF
rank
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type
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Statement
wasDerivedFrom
babaaa0f8446f1000d1bf881b52055c602b87626
P2860
Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1