All individuals with variants in gene NUP107

2 entries on 1 page. Showing entries 1 - 2.
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00225709 25558065-Fam11DG0417 PubMed: Alazami 2015, Journal: Alazami 2015 4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Saudi Arabia - - 0 - - ? see paper; …, global developmental delay, light complexion, early onset focal segmental glomerulosclerosis 1 3 Johan den Dunnen
00361562 11DG0417 PubMed: Anazi 2017 familial M yes Saudi Arabia - - 0 - - ID syndromic; global developmental delay, microcephaly and focal segmental glomerulosclerosis 1 1 Johan den Dunnen
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