Varaico: Literature-Extracted Genetic Variants

Gene:NPHP4
Variant:p.E1190E
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NPHP4

NM_015102.5:p.E1190E

Associated Papers

A very early diagnosis of Alstrӧm syndrome by next generation sequencing.

Gatticchi L et al.

Bmc Medical Genetics, 2020

32867697 (PubMed )
Supplement: 12881_2020_1110_MOESM2_ESM.xls › NGS277_S29011_Complete

Dissecting the Mutational Landscape of Cutaneous Melanoma: An Omic Analysis Based on Patients from Greece.

Kontogianni G et al.

Cancers, 2018

29596374 (PubMed )
Supplement: cancers-10-00096-s001.zip › Table_S1.xlsx › S1
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