Results 151 to 160 of about 151,372 (221)

PRITrans: A Transformer-Based Approach for the Prediction of the Effects of Missense Mutation on Protein-RNA Interactions. [PDF]

Int J Mol Sci
Ge F, Li CF, Zhang CM, Zhang M, Yu DJ.
europepmc   +1 more source

A missense point mutation (Ser515Phe) in the adrenoleukodystrophy gene in a family with adrenomyeloneuropathy: a clinical, biochemical, and genetic study.

, 1995
Matthias Vorgerd, Sigrid Fuchs, Martin Tegenthoff, J.‐P. Malin   +3 more
openalex   +1 more source

Novel ITGB4 Mutations in Lethal and Nonlethal Variants of Epidermolysis Bullosa with Pyloric Atresia: Missense versus Nonsense [PDF]

, 1998
Leena Pulkkinen, Fatima Rouan, Leena Bruckner–Tuderman, Robert Wallerstein, María C. Garzon, Tod A. Brown, Lynne T. Smith, William Carter, Jouni Uitto   +8 more
openalex   +1 more source

Identification of a Missense Mutation in the FLNC Gene from a Chinese Family with Restrictive Cardiomyopathy [Letter]. [PDF]

J Multidiscip Healthc
Idrus HH.
europepmc   +1 more source

Addition of a Missense Mutation Present in the L Gene of Respiratory Syncytial Virus (RSV)cpts530/1030 to RSV Vaccine Candidatecpts248/404 Increases Its Attenuation and Temperature Sensitivity [PDF]

, 1999
Stephen S. Whitehead, Cai-Yen Firestone, Ruth A. Karron, James E. Crowe, William R. Elkins, Peter L. Collins, Brian R. Murphy   +6 more
openalex   +1 more source

Pre-gestational diabetes in a young woman with a pathogenic INSR missense mutation, p.(Met1180Lys). [PDF]

Endocrinol Diabetes Metab Case Rep
Prehn EL, Crowley M, Fennell D, Kinsley BT, Colclough K, Byrne MM.   +5 more
europepmc   +1 more source

Central Diabetes Insipidus Associated with a Missense Mutation in the Arginine Vasopressin Gene that Replaces Ala at the Carboxyterminus of the Signal Peptide with Thr.

, 1998
Akiko Kawakami, Yasuyuki Okamoto, Tsunehiko Yamamoto, Youichi Tatsumi, Takami Miki, Shiro Tanaka, Satoru Fujii   +6 more
openalex   +2 more sources

A de novo missense mutation of human cardiac Na⁺ channel exhibiting novel molecular mechanisms of long QT syndrome [PDF]

, 1998
Naomasa Makita, Nobumasa Shirai, Masato Nagashima, Rumiko Matsuoka, Yoichi Yamada, Noritsugu Tohse, Akira Kitabatake   +6 more
openalex   +1 more source

Novel missense and frameshift mutations in the adrenoleukodystrophy gene [PDF]

Japanese Journal of Human Genetics, 1996
Iwao Ohkubo, Morimi Shimada, Hisao Ueyama, Tsunekazu Yamano   +3 more
openaire   +3 more sources

The novel SERPINC1 missense mutation c.1148 T > A (p.L383H) causes hereditary antithrombin deficiency and thromboembolism in a Chinese family: a case report. [PDF]

J Med Case Rep
He F, Wang Y, Ning W, Liu C, Guan X, Yao Y.   +5 more
europepmc   +1 more source