Varaico: Literature-Extracted Genetic Variants

Gene:C1orf50
Variant:p.R71*
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C1orf50

NM_024097.4:p.R71*

Associated Papers

Translocational renal cell carcinoma (t(6;11)(p21;q12) with transcription factor EB (TFEB) amplification and an integrated precision approach: a case report.

Lilleby W et al.

Journal of Medical Case Reports, 2015

Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants.

Griswold AJ et al.

Molecular Autism, 2015

26185613 (PubMed )
Supplement: 13229_2015_34_MOESM3_ESM.xlsx › Sheet1
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