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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NPHS1

Variant:p.M118L

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NPHS1

NM_004646.4:p.M118L

hg38:chr19:35851307 T>A

Associated Papers

A Novel Role for CSRP1 in a Lebanese Family with Congenital Cardiac Defects.

Kamar A et al.

Frontiers in Genetics, 2017

29326753 (PubMed )

Supplement: Table2.PDF

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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."