Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.
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Genetics and Genomic Medicine in Egypt: steady pace.Recent advancements in understanding mammalian O-mannosylation.Discovery of an O-mannosylation pathway selectively serving cadherins and protocadherins.Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy.Clinical genetics and genomic medicine in Qatar
P2860
Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
@pt
bilimsel makale
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scientific article published on 14 October 2016
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Biallelic Mutations in TMTC3, ...... to Cobblestone Lissencephaly.
@en
Biallelic Mutations in TMTC3, ...... to Cobblestone Lissencephaly.
@nl
type
label
Biallelic Mutations in TMTC3, ...... to Cobblestone Lissencephaly.
@en
Biallelic Mutations in TMTC3, ...... to Cobblestone Lissencephaly.
@nl
prefLabel
Biallelic Mutations in TMTC3, ...... to Cobblestone Lissencephaly.
@en
Biallelic Mutations in TMTC3, ...... to Cobblestone Lissencephaly.
@nl
P2093
P2860
P50
P1476
Biallelic Mutations in TMTC3, ...... to Cobblestone Lissencephaly.
@en
P2093
Ahmet Okay Çağlayan
Beate Albrecht
Caner Caglar
Damir Musaev
Esra Dikoglu
Gonul Ogur
Jennifer L Silhavy
Jiri Vajsar
Julie Jerber
Jumana Y Al-Aama
P2860
P304
P356
10.1016/J.AJHG.2016.09.007
P407
P577
2016-10-14T00:00:00Z