All individuals with variants in gene AASS

3 entries on 1 page. Showing entries 1 - 3.
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AscendingIndividual ID     

ID_report     

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VIP     

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Owner     
00050520 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? upper limb phocomelia, aplasia/hypoplasia of the thumb, patent ductus arteriosus, vesicoureteral reflux, conical incisor, abnormality of tear glands or tear production, feeding difficulties in infancy, proportionate short stature, global developmental delay, intrauterine growth retardation 1 1 Johan den Dunnen
00050581 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? patent ductus arteriosus, midline central nervous system lipomas, global developmental delay, abnormality of the sclera, short philtrum 1 1 Johan den Dunnen
00294313 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
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