All individuals with variants in gene AAAS

4 entries on 1 page. Showing entries 1 - 4.
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AscendingIndividual ID     

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Owner     
00290756 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00295567 - - - F - - - - 0 - - ? Abnormality of the curvature of the vertebral column (HP:0010674); Global developmental delay (HP:0001263); Abnormality of nervous system physiology (HP:0012638); Hip dysplasia (HP:0001385); Abnormality of the esophagus (HP:0002031); Achalasia (HP:0002571); Scoliosis (HP:0002650); Abnormality of the hip bone (HP:0003272); Demyelinating peripheral neuropathy (HP:0007108); Sensorimotor neuropathy (HP:0007141) 1 1 Andreas Laner
00374172 R-4266 PubMed: Ganapathy 2019 - - - India - - 0 - - ? Features suggestive of AAA syndrome 1 1 Johan den Dunnen
00374173 S-3752 PubMed: Ganapathy 2019 - - - India - - 0 - - ? Decreased lacrimation, adrenal insufficiency and achalasia 1 1 Johan den Dunnen
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