Description of candidate variants under the prioritization criteria identified with the ANNOVAR tool in AD family.
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posted on 2022-07-29, 17:28 authored by Johanna Alexandra Tejada Moreno, Andrés Villegas Lanau, Lucia Madrigal Zapata, Ana Yulied Baena Pineda, Juan Velez Hernandez, Omer Campo Nieto, Alejandro Soto Ospina, Pedronel Araque Marín, Lavanya Rishishwar, Emily T. Norris, Aroon T. Chande, I. King Jordan, Gabriel Bedoya BerrioDescription of candidate variants under the prioritization criteria identified with the ANNOVAR tool in AD family.
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synaptic functioning mechanismssequenced two affectedone unaffected memberfavor hydrophobic interactionsamyloid -&# 946alzheimer &# 8217potential risk variantsmthfd1l variants showsidentifying genetic variantsstructural 3d modelslocal structural changesspanning three generationsmthfdl1 possibly contributemthfd1l genes segregatinghighly penetrant mutationsthree genescandidate variantsstructural modelmay contributewithout mutationsused wholesporadic formsprotein functionoligogenic inheritancelipid metabolismimmune systemfamilial formsexome sequencingeleven memberscould explaincould affectcommon causealso built97 members152 million
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