Results 61 to 70 of about 140,139 (75)

<i>purpleoid ¹</i> , a classic <i>Drosophila</i> eye color mutation, is an allele of the t-SNARE-encoding gene <i>SNAP29</i>. [PDF]

MicroPubl Biol
Dean DM, Codd LE, Constanza R, Segel XM.
europepmc   +1 more source

Genetic landscape and ocular biometric correlations in microspherophakia: insights from a comprehensive patient cohort. [PDF]

Hum Genomics
Liu Y, Sun Y, Huo Q, Song L, Wang X, Shen X, Zhao Y, Chen T, Jiang Y.   +8 more
europepmc   +1 more source

Spliceosome protein EFTUD2: A potential pathogenetic factor in tumorigenesis and some developmental defects (Review). [PDF]

Mol Med Rep
Yin A, Zhu Q, Chen Y, Wang J.
europepmc   +1 more source

Genetic screening in cohort of Egyptian patients with pulmonary arterial hypertension disease. [PDF]

Ir J Med Sci
Ayyad SIE, Refeat MM, Ashaat EA, Abdel-Ghaffar AB, Hamdy GM.   +4 more
europepmc   +1 more source

Prion-Dependent Lethality of <i>sup35</i> Missense Mutations Is Caused by Low GTPase Activity of the Mutant eRF3 Protein. [PDF]

Int J Mol Sci
Trubitsina NP, Zemlyanko OM, Matveenko AG, Bondarev SA, Moskalenko SE, Maksiutenko EM, Zudilova AA, Rogoza TM, Zhouravleva GA.   +8 more
europepmc   +1 more source

Association between ABCB4 variants and intrahepatic cholestasis of pregnancy. [PDF]

Sci Rep
Zhang D, Li Y, He S, Shu J, Li T, Sun Q.
europepmc   +1 more source

A novel PTH1R mutation causes primary failure of eruption via the cAMP-PI3K/AKT pathway. [PDF]

Prog Orthod
Lu K, Qian Y, Gong J, Li Z, Yu M, Wang H.   +5 more
europepmc   +1 more source

The Mutations in <i>RcMYB114</i> Affect Anthocyanin Glycoside Accumulation in Rose. [PDF]

Biology (Basel)
Li M, Yang Y, Wang H, Sun P, Zhou S, Kang Y, Sun X, Jin M, Jin W.   +8 more
europepmc   +1 more source

Gene therapy shines light on congenital stationary night blindness for future cures. [PDF]

J Transl Med
Zhang Y, Lin S, Yu L, Lin X, Qu S, Ye Q, Yu M, Chen W, Wu W.   +8 more
europepmc   +1 more source