Varaico: Literature-Extracted Genetic Variants

Gene:NPHP4
Variant:p.D1010N
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NPHP4

NM_015102.5:p.D1010N

Associated Papers

Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases.

Wilke MVMB et al.

Orphanet Journal of Rare Diseases, 2024

38790019 (PubMed )
Supplement: 13023_2024_3213_MOESM2_ESM.pdf

Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).

Pinto E Vairo F et al.

Journal of Translational Medicine, 2023

37353797 (PubMed )
Supplement: 12967_2023_4183_MOESM3_ESM.xlsx › Table_S3

MUG-Mel2, a novel highly pigmented and well characterized NRAS mutated human melanoma cell line.

Rinner B et al.

Scientific Reports, 2017

28522871 (PubMed )
Supplement: 41598_2017_2197_MOESM1_ESM.pdf
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