Varaico: Literature-Extracted Genetic Variants

Gene:VEPH1
Variant:p.D336N
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VEPH1

NM_001167912.2:p.D336N

Associated Papers

Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).

Riedhammer KM et al.

Kidney International, 2024

38154558 (PubMed )
Supplement: mmc2.xlsx › Family_1

Divergent Roles of PI3K Isoforms in PTEN-Deficient Glioblastomas.

Xie S et al.

Cell Reports, 2020

32997991 (PubMed )
Supplement: NIHMS1633676-supplement-2.xlsx › BT179_Mutations

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 143.91
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."