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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 2 (of 2 Records)

Query Trace: Nephrotic Syndrome and NUP93[original query]
Genetic diagnosis of steroid-resistant nephrotic syndrome in a longitudinal collection of Czech and Slovak patients: a high proportion of causative variants in NUP93.
Pediatric nephrology (Berlin, Germany) 2018 Jun .
Bezdí?ka Martin, Štolbová Šárka, Seeman Tomáš, Cinek Ond?ej, Malina Michal, Šimánková Nad?žda, Pr?hová Št?pánka, Zieg Jak
Identification of recurrent pathogenic alleles using exome sequencing data: Proof-of-concept study of Russian subjects.
European journal of medical genetics 2022 1 65 (2): 104426.
Orlov Igor E, Laidus Tatiana A, Tumakova Anastasia V, Yanus Grigoriy A, Iyevleva Aglaya G, Sokolenko Anna P, Bizin Ilya V, Imyanitov Evgeny N, Suspitsin Evgeny
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