Varaico: Literature-Extracted Genetic Variants

Gene:PATJ
Variant:p.V1516L
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PATJ

NM_001350145.3:p.V1516L

Associated Papers

A renal cell carcinoma tumorgraft platform to advance precision medicine.

Elias R et al.

Cell Reports, 2021

34818533 (PubMed )
Supplement: NIHMS1761779-supplement-Table_S8.xlsx › Sheet1

Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome.

Duran I et al.

Scientific Reports, 2016

27666822 (PubMed )
Supplement: srep34232-s2.xls › Sheet1
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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."