All individuals with variants in gene FARP2

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

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VIP     

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Owner     
00104036 Vogelaar-759A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - - - - cancer, gastric diffuse-type or intestinal-type gastric cancer 1 1 Marjolijn JL Ligtenberg
00240389 FamAPatIII3 PubMed: Fichtman 2019, Journal: Fichtman 2019 3-generation family, 2 affected (2M), unaffected heterozygous carrier parents/relatives F yes Palestine - - - - - ENC developmental delay; developmental regression; febrile-induced regression 21m; epilepsy; progressive microcephaly; no hypotonia; appendicular spasticity; ataxia; no myoclonic jerks; cerebellar atrophy; basal ganglia involvement; hyponatremia upon acute presentation 1 2 Johan den Dunnen
00240390 FamAPatIII12 PubMed: Fichtman 2019, Journal: Fichtman 2019 PatIII12 F yes Palestine - - - - - ENC developmental delay; developmental regression; febrile-induced regression 5m15d; no epilepsy; progressive microcephaly; hypotonia; myoclonic jerks; cerebellar atrophy; no basal ganglia involvement; hyponatremia upon acute presentation 1 1 Johan den Dunnen
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