Associated Papers
Somatic Mutation of PRKAR1A in Four Cases of Sporadic Cardiac Myxoma.
Sun Y et al.
Archives of Iranian Medicine, 2023
38310436 (PubMed )
Supplement: aim-26-346-s001.pdf
A Novel PCNT Frame Shift Variant (c.7511delA) Causing Osteodysplastic Primordial Dwarfism of Majewski Type 2 (MOPD II).
Dehghan Tezerjani M et al.
Frontiers in Pediatrics, 2020
32671003 (PubMed )
Supplement: Table_1.xlsx › Sheet1
Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella.
Shen Y et al.
Nature Communications, 2019
30683861 (PubMed )
Supplement: 41467_2018_8182_MOESM10_ESM.xls › PB
Exome sequencing identifies SUCO mutations in mesial temporal lobe epilepsy.
Sha Z et al.
Neuroscience Letters, 2015
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