Varaico: Literature-Extracted Genetic Variants

Gene:TULP1
Variant:p.S487P
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TULP1

NM_003322.6:p.S487P

Associated Papers

Application of Whole Exome and Targeted Panel Sequencing in the Clinical Molecular Diagnosis of 319 Chinese Families with Inherited Retinal Dystrophy and Comparison Study.

Wang L et al.

Genes, 2018

30029497 (PubMed )
Supplement: genes-09-00360-s001.zip › TableS1.xlsx › Sheet1

Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.

Eisenberger T et al.

Plos One, 2013

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