Results 121 to 130 of about 537,790 (185)

A Novel Intronic Variant in <i>MED12</i> Associated with a Predominantly Hepatobiliary Phenotype Suggestive of Hardikar Syndrome: A Case Report and Literature Review. [PDF]

Genes (Basel)
El Kahy N, Moukarzel A, Assaf N, Chdid R, Moussallem R, Salem N, Chebly A.   +6 more
europepmc   +1 more source

Noncanonical Splice Site Disruption: +4 Intronic Variant in Phosphate-Regulating Endopeptidase Homolog, X-linked (PHEX Gene) Supported by In Silico Analysis in X-linked Hypophosphatemic Rickets. [PDF]

Cureus
Panqueba Arias CF, Rojas Rodriguez IK, Quero RI, Baez CC.   +3 more
europepmc   +1 more source

Case report: Functional characterization of a novel CHD7 intronic variant in patients with CHARGE syndrome. [PDF]

Front Genet, 2023
Rossi C, Ramadan S, Evangelisti C, Ferrari S, Accadia M, Toydemir RM, Panza E.   +6 more
europepmc   +1 more source

Functional Evaluation of PKD1 Intronic Variants by Minigene Assays

Kidney International Reports
Youn, Seon Hoo, Kim, Boram, Park, Hayne Cho, Kim, Yong Chul, Bae, Eun Hui, Oh, Yun Kyu, Jang, Joo won, Chae, Seung Won, Lee, Jee-Soo, Seong, Moon-Woo   +9 more
openaire   +2 more sources

A Novel Intronic Variant Causes Aberrant Splicing of PCDH15 in a Family With Usher Syndrome Type 1F. [PDF]

Mol Genet Genomic Med
Ma Q, Xu C, Xu X, Xiang Y.
europepmc   +1 more source

Homozygous deep intronic variant in SNX14 cause autosomal recessive Spinocerebellar ataxia 20: a case report. [PDF]

Front Genet, 2023
Levchenko O, Filatova A, Mishina I, Antonenko A, Skoblov M.   +4 more
europepmc   +1 more source

Functional impact of a deep intronic variant in the RPS19 gene detected in a case of Diamond-Blackfan anemia syndrome. [PDF]

Haematologica
Kanezaki R, Toki T, Okuse R, Kobayashi A, Sato M, Kimura S, Kudo K, Sato T, Tanaka T, Yoshida K, Kawai Y, Tokunaga K, Takita J, Ogawa S, Terui K, Ito E.   +15 more
europepmc   +1 more source

An FBN1 deep intronic variant is associated with pseudoexon formation and a variable Marfan phenotype in a five generation family. [PDF]

Clin Genet, 2023
Guo DC, Duan X, Mimnagh K, Cecchi AC, Marin IC, Yu Y, Velasco WV, Lee K, Zhu X, Murdock DR, Leal SM, Wheeler MM, Smith J, Bamshad MJ, Milewicz DM.   +14 more
europepmc   +1 more source

Identification and functional analysis of a novel <i>TRAPPC2</i> intronic variant in a four-generation Chinese pedigree with SEDT. [PDF]

Front Genet
Lyu Y, Xu W, Xu B, Tang X, Xiao M, Lan X, Yang Y, Song X, Wu S.   +8 more
europepmc   +1 more source

A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing. [PDF]

EMBO Mol Med, 2023
Nabavizadeh N, Bressin A, Shboul M, Moreno Traspas R, Chia PH, Bonnard C, Szenker-Ravi E, Sarıbaş B, Beillard E, Altunoglu U, Hojati Z, Drutman S, Freier S, El-Khateeb M, Fathallah R, Casanova JL, Soror W, Arafat A, Escande-Beillard N, Mayer A, Reversade B.   +20 more
europepmc   +1 more source