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RAB40AL;jsessionid=AD9B4E16CFEC556D1A3592F4DE44D2CE
(gene)
Summary
General Info
Body Atlas
Most Correlated Tissues
Granulocyte-macrophage progenitor cell of bone marrow
Ascending colon
Macrophage of peripheral blood
Transverse colon
Rectum colon
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Most Correlated Diseases
Transplanted organ rejection
Interstitial lung disease
Lichen
Bronchitis
Pneumonia
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Metyrosine
Riboflavin
Piperacillin
Ergocalciferols
Cotinine
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Most Correlated Gene Perturbations
ZCCHC24
BCOR
YAF2
SRSF3
UBA52
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Literature
Most Relevant Literature
A note of caution on the diagnosis of Martin-Probst syndrome by the detection of the p.D59G mutation…
Mutation in the X-linked RAB40AL gene (Martin-Probst syndrome) with mental retardation, sensorineura…
Evidence against RAB40AL being the locus for Martin-Probst X-linked deafness-intellectual disability…
Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurode…
Two‑gene mutation in a single patient: Biochemical and functional analysis for a correct interpretat…
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There were no clinical trials for RAB40AL;jsessionid=AD9B4E16CFEC556D1A3592F4DE44D2CE
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