Varaico: Literature-Extracted Genetic Variants

Gene:CATSPER1
Variant:p.R295W
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CATSPER1

NM_053054.4:p.R295W

Associated Papers

A novel dual histone mark reader ZCWPW2 regulates meiotic recombination through lactylation and transcriptional regulation in humans and mice.

Ruan T et al.

Nucleic Acids Research, 2026

41574437 (PubMed )
Supplement: gkag049_supplemental_files.zip › Table_S6.xlsx › Table_S6

Rise and fall of subclones from diagnosis to relapse in pediatric B-acute lymphoblastic leukaemia.

Ma X et al.

Nature Communications, 2015

25790293 (PubMed )
Supplement: ncomms7604-s3.xls › Sheet1

TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

Ogata T et al.

Plos One, 2014

24637876 (PubMed )
Supplement: pone.0091598.s004.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."