Varaico: Literature-Extracted Genetic Variants

Gene:PLSCR5
Variant:p.P18L
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PLSCR5

NM_001085420.2:p.P18L

Associated Papers

Identification of IQCH as a calmodulin-associated protein required for sperm motility in humans.

Cavarocchi E et al.

Iscience, 2023

37520705 (PubMed )
Supplement: mmc1.pdf

Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.

Machnicki MM et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021

33170376 (PubMed )
Supplement: 10072_2020_4876_MOESM3_ESM.xlsx › variants
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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."