RecName: Full=Ras-related protein Rab-40A-like; AltName: Full=Ras-like - Protein

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A note of caution on the diagnosis of Martin-Probst syndrome by the detection of the p.D59G mutation in the RAB40AL gene. [Eur J Pediatr. 2015]
A note of caution on the diagnosis of Martin-Probst syndrome by the detection of the p.D59G mutation in the RAB40AL gene.
Ołdak M, Ruszkowska E, Pollak A, Sobczyk-Kopcioł A, Kowalewski C, Piwońska A, Drygas W, Płoski R. Eur J Pediatr. 2015 May; 174(5):693-6. Epub 2014 Nov 5.
Evidence against RAB40AL being the locus for Martin-Probst X-linked deafness-intellectual disability syndrome. [Hum Mutat. 2014]
Evidence against RAB40AL being the locus for Martin-Probst X-linked deafness-intellectual disability syndrome.
Ołdak M, Ścieżyńska A, Młynarski W, Borowiec M, Ruszkowska E, Szulborski K, Pollak A, Kosińska J, Mueller-Malesińska M, Stawiński P, et al. Hum Mutat. 2014 Oct; 35(10):1171-4. Epub 2014 Aug 7.
Mutation in the X-linked RAB40AL gene (Martin-Probst syndrome) with mental retardation, sensorineural hearing loss, and anomalies of the craniofacies and genitourinary tract: a second case report. [Eur J Pediatr. 2014]
Mutation in the X-linked RAB40AL gene (Martin-Probst syndrome) with mental retardation, sensorineural hearing loss, and anomalies of the craniofacies and genitourinary tract: a second case report.
Lee J, Wong S, Boles RG. Eur J Pediatr. 2014 Jul; 173(7):967-9. Epub 2014 May 27.

RefSeq genomic sequence
See the genomic reference sequence for the RAB40AL gene (NG_017150.1).
RefSeq protein
See the reference protein sequence for ras-related protein Rab-40A-like (NP_001027004.1).

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P0C0E4 [Domain Mapping of Disease Mut...]
P0C0E4
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
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reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

RecName: Full=Ras-related protein Rab-40A-like; AltName: Full=Ras-like GTPase
RecName: Full=Ras-related protein Rab-40A-like; AltName: Full=Ras-like GTPase
gi|83287760|sp|P0C0E4.1|RB40L_HUMAN

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