Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations.
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Bardet-Biedl SyndromeBardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease managementAccumulation of non-outer segment proteins in the outer segment underlies photoreceptor degeneration in Bardet-Biedl syndrome.Depletion of BBS Protein LZTFL1 Affects Growth and Causes Retinal Degeneration in Mice.Genetics of human Bardet-Biedl syndrome, an updates.Primary Cilia and Coordination of Receptor Tyrosine Kinase (RTK) and Transforming Growth Factor β (TGF-β) Signaling.Integration of over 9,000 mass spectrometry experiments builds a global map of human protein complexes.
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P2860
Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations.
description
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Mesoaxial polydactyly is a maj ...... with LZTFL1 (BBS17) mutations.
@en
Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1
@nl
type
label
Mesoaxial polydactyly is a maj ...... with LZTFL1 (BBS17) mutations.
@en
Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1
@nl
prefLabel
Mesoaxial polydactyly is a maj ...... with LZTFL1 (BBS17) mutations.
@en
Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1
@nl
P2093
P2860
P356
P1433
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Mesoaxial polydactyly is a maj ...... with LZTFL1 (BBS17) mutations.
@en
P2093
A Claussmann
C Obringer
C Schmidt-Mutter
C Stoetzel
E Schaefer
P2860
P304
P356
10.1111/CGE.12198
P50
P577
2013-06-12T00:00:00Z