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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NPHS1

Variant:p.V634_Y644delFs

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NPHS1

NM_004646.4:p.V634_Y644delFs

hg38:chr19:35845365 TACACAGTACGTTGAGGCGATAGAAGGAGCTC>T

Associated Papers

Rare diseases, rare presentations: recognizing atypical inherited kidney disease phenotypes in the age of genomics.

Ars E et al.

Clinical Kidney Journal, 2017

28980669 (PubMed )

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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."