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1
Q34979383-FD588B84-1CE3-4E3C-AE2B-3680C4F42DBA
Q34979383-FD588B84-1CE3-4E3C-AE2B-3680C4F42DBA
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34979383-FD588B84-1CE3-4E3C-AE2B-3680C4F42DBA
A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.
P2860
Q34979383-FD588B84-1CE3-4E3C-AE2B-3680C4F42DBA
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34979383-FD588B84-1CE3-4E3C-AE2B-3680C4F42DBA
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
a79076c1fa29dccc3c90b843af2c1be79fb43d04
P2860
Pathophysiology and management of inherited bone marrow failure syndromes.